VarSight: prioritizing clinically reported variants with binary classification algorithms Article Swipe
James Holt
,
Brandon Wilk
,
Camille L. Birch
,
Donna M. Brown
,
Manavalan Gajapathy
,
Alexander C. Moss
,
Nadiya Sosonkina
,
Melissa A. Wilk
,
Julie A. Anderson
,
Jeremy M. Harris
,
Jacob M. Kelly
,
Fariba Shaterferdosian
,
Angelina Uno-Antonison
,
Arthur Weborg
,
Elizabeth A. Worthey
·
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1186/s12859-019-3026-8
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1186/s12859-019-3026-8
Background When applying genomic medicine to a rare disease patient, the primary goal is to identify one or more genomic variants that may explain the patient’s phenotypes. Typically, this is done through annotation, filtering, and then prioritization of variants for manual curation. However, prioritization of variants in rare disease patients remains a challenging task due to the high degree of variability in phenotype presentation and molecular source of disease. Thus, methods that can identify and/or prioritize variants to be clinically reported in the presence of such variability are of critical importance. Methods We tested the application of classification algorithms that ingest variant annotations along with phenotype information for predicting whether a variant will ultimately be clinically reported and returned to a patient. To test the classifiers, we performed a retrospective study on variants that were clinically reported to 237 patients in the Undiagnosed Diseases Network. Results We treated the classifiers as variant prioritization systems and compared them to four variant prioritization algorithms and two single-measure controls. We showed that the trained classifiers outperformed all other tested methods with the best classifiers ranking 72% of all reported variants and 94% of reported pathogenic variants in the top 20. Conclusions We demonstrated how freely available binary classification algorithms can be used to prioritize variants even in the presence of real-world variability. Furthermore, these classifiers outperformed all other tested methods, suggesting that they may be well suited for working with real rare disease patient datasets.
Related Topics
Concepts
Prioritization
Binary classification
Ranking (information retrieval)
DNA microarray
Disease
Computer science
Machine learning
Phenotype
Precision medicine
Artificial intelligence
Computational biology
Annotation
Genomics
Medicine
Biology
Genetics
Genome
Gene
Support vector machine
Pathology
Gene expression
Economics
Management science
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1186/s12859-019-3026-8
- https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-019-3026-8
- OA Status
- gold
- Cited By
- 19
- References
- 52
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2981076428
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W2981076428Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1186/s12859-019-3026-8Digital Object Identifier
- Title
-
VarSight: prioritizing clinically reported variants with binary classification algorithmsWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2019Year of publication
- Publication date
-
2019-10-15Full publication date if available
- Authors
-
James Holt, Brandon Wilk, Camille L. Birch, Donna M. Brown, Manavalan Gajapathy, Alexander C. Moss, Nadiya Sosonkina, Melissa A. Wilk, Julie A. Anderson, Jeremy M. Harris, Jacob M. Kelly, Fariba Shaterferdosian, Angelina Uno-Antonison, Arthur Weborg, Elizabeth A. WortheyList of authors in order
- Landing page
-
https://doi.org/10.1186/s12859-019-3026-8Publisher landing page
- PDF URL
-
https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-019-3026-8Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-019-3026-8Direct OA link when available
- Concepts
-
Prioritization, Binary classification, Ranking (information retrieval), DNA microarray, Disease, Computer science, Machine learning, Phenotype, Precision medicine, Artificial intelligence, Computational biology, Annotation, Genomics, Medicine, Biology, Genetics, Genome, Gene, Support vector machine, Pathology, Gene expression, Economics, Management scienceTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
19Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 1, 2024: 4, 2023: 3, 2022: 4, 2021: 3Per-year citation counts (last 5 years)
- References (count)
-
52Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W2981076428 |
|---|---|
| doi | https://doi.org/10.1186/s12859-019-3026-8 |
| ids.doi | https://doi.org/10.1186/s12859-019-3026-8 |
| ids.mag | 2981076428 |
| ids.pmid | https://pubmed.ncbi.nlm.nih.gov/31615419 |
| ids.openalex | https://openalex.org/W2981076428 |
| fwci | 1.95387777 |
| mesh[0].qualifier_ui | |
| mesh[0].descriptor_ui | D000465 |
| mesh[0].is_major_topic | True |
| mesh[0].qualifier_name | |
| mesh[0].descriptor_name | Algorithms |
| mesh[1].qualifier_ui | Q000175 |
| mesh[1].descriptor_ui | D030342 |
| mesh[1].is_major_topic | False |
| mesh[1].qualifier_name | diagnosis |
| mesh[1].descriptor_name | Genetic Diseases, Inborn |
| mesh[2].qualifier_ui | Q000235 |
| mesh[2].descriptor_ui | D030342 |
| mesh[2].is_major_topic | False |
| mesh[2].qualifier_name | genetics |
| mesh[2].descriptor_name | Genetic Diseases, Inborn |
| mesh[3].qualifier_ui | |
| mesh[3].descriptor_ui | D020022 |
| mesh[3].is_major_topic | False |
| mesh[3].qualifier_name | |
| mesh[3].descriptor_name | Genetic Predisposition to Disease |
| mesh[4].qualifier_ui | |
| mesh[4].descriptor_ui | D015894 |
| mesh[4].is_major_topic | False |
| mesh[4].qualifier_name | |
| mesh[4].descriptor_name | Genome, Human |
| mesh[5].qualifier_ui | Q000379 |
| mesh[5].descriptor_ui | D023281 |
| mesh[5].is_major_topic | False |
| mesh[5].qualifier_name | methods |
| mesh[5].descriptor_name | Genomics |
| mesh[6].qualifier_ui | |
| mesh[6].descriptor_ui | D006801 |
| mesh[6].is_major_topic | False |
| mesh[6].qualifier_name | |
| mesh[6].descriptor_name | Humans |
| mesh[7].qualifier_ui | |
| mesh[7].descriptor_ui | D009154 |
| mesh[7].is_major_topic | True |
| mesh[7].qualifier_name | |
| mesh[7].descriptor_name | Mutation |
| mesh[8].qualifier_ui | |
| mesh[8].descriptor_ui | D010641 |
| mesh[8].is_major_topic | False |
| mesh[8].qualifier_name | |
| mesh[8].descriptor_name | Phenotype |
| mesh[9].qualifier_ui | |
| mesh[9].descriptor_ui | D011110 |
| mesh[9].is_major_topic | False |
| mesh[9].qualifier_name | |
| mesh[9].descriptor_name | Polymorphism, Genetic |
| mesh[10].qualifier_ui | Q000379 |
| mesh[10].descriptor_ui | D057285 |
| mesh[10].is_major_topic | False |
| mesh[10].qualifier_name | methods |
| mesh[10].descriptor_name | Precision Medicine |
| mesh[11].qualifier_ui | Q000175 |
| mesh[11].descriptor_ui | D035583 |
| mesh[11].is_major_topic | False |
| mesh[11].qualifier_name | diagnosis |
| mesh[11].descriptor_name | Rare Diseases |
| mesh[12].qualifier_ui | Q000235 |
| mesh[12].descriptor_ui | D035583 |
| mesh[12].is_major_topic | False |
| mesh[12].qualifier_name | genetics |
| mesh[12].descriptor_name | Rare Diseases |
| mesh[13].qualifier_ui | |
| mesh[13].descriptor_ui | D012189 |
| mesh[13].is_major_topic | False |
| mesh[13].qualifier_name | |
| mesh[13].descriptor_name | Retrospective Studies |
| mesh[14].qualifier_ui | Q000379 |
| mesh[14].descriptor_ui | D017422 |
| mesh[14].is_major_topic | False |
| mesh[14].qualifier_name | methods |
| mesh[14].descriptor_name | Sequence Analysis, DNA |
| mesh[15].qualifier_ui | |
| mesh[15].descriptor_ui | D012984 |
| mesh[15].is_major_topic | False |
| mesh[15].qualifier_name | |
| mesh[15].descriptor_name | Software |
| mesh[16].qualifier_ui | |
| mesh[16].descriptor_ui | D000465 |
| mesh[16].is_major_topic | True |
| mesh[16].qualifier_name | |
| mesh[16].descriptor_name | Algorithms |
| mesh[17].qualifier_ui | Q000175 |
| mesh[17].descriptor_ui | D030342 |
| mesh[17].is_major_topic | False |
| mesh[17].qualifier_name | diagnosis |
| mesh[17].descriptor_name | Genetic Diseases, Inborn |
| mesh[18].qualifier_ui | Q000235 |
| mesh[18].descriptor_ui | D030342 |
| mesh[18].is_major_topic | False |
| mesh[18].qualifier_name | genetics |
| mesh[18].descriptor_name | Genetic Diseases, Inborn |
| mesh[19].qualifier_ui | |
| mesh[19].descriptor_ui | D020022 |
| mesh[19].is_major_topic | False |
| mesh[19].qualifier_name | |
| mesh[19].descriptor_name | Genetic Predisposition to Disease |
| mesh[20].qualifier_ui | |
| mesh[20].descriptor_ui | D015894 |
| mesh[20].is_major_topic | False |
| mesh[20].qualifier_name | |
| mesh[20].descriptor_name | Genome, Human |
| mesh[21].qualifier_ui | Q000379 |
| mesh[21].descriptor_ui | D023281 |
| mesh[21].is_major_topic | False |
| mesh[21].qualifier_name | methods |
| mesh[21].descriptor_name | Genomics |
| mesh[22].qualifier_ui | |
| mesh[22].descriptor_ui | D006801 |
| mesh[22].is_major_topic | False |
| mesh[22].qualifier_name | |
| mesh[22].descriptor_name | Humans |
| mesh[23].qualifier_ui | |
| mesh[23].descriptor_ui | D009154 |
| mesh[23].is_major_topic | True |
| mesh[23].qualifier_name | |
| mesh[23].descriptor_name | Mutation |
| mesh[24].qualifier_ui | |
| mesh[24].descriptor_ui | D010641 |
| mesh[24].is_major_topic | False |
| mesh[24].qualifier_name | |
| mesh[24].descriptor_name | Phenotype |
| mesh[25].qualifier_ui | |
| mesh[25].descriptor_ui | D011110 |
| mesh[25].is_major_topic | False |
| mesh[25].qualifier_name | |
| mesh[25].descriptor_name | Polymorphism, Genetic |
| mesh[26].qualifier_ui | Q000379 |
| mesh[26].descriptor_ui | D057285 |
| mesh[26].is_major_topic | False |
| mesh[26].qualifier_name | methods |
| mesh[26].descriptor_name | Precision Medicine |
| mesh[27].qualifier_ui | Q000175 |
| mesh[27].descriptor_ui | D035583 |
| mesh[27].is_major_topic | False |
| mesh[27].qualifier_name | diagnosis |
| mesh[27].descriptor_name | Rare Diseases |
| mesh[28].qualifier_ui | Q000235 |
| mesh[28].descriptor_ui | D035583 |
| mesh[28].is_major_topic | False |
| mesh[28].qualifier_name | genetics |
| mesh[28].descriptor_name | Rare Diseases |
| mesh[29].qualifier_ui | |
| mesh[29].descriptor_ui | D012189 |
| mesh[29].is_major_topic | False |
| mesh[29].qualifier_name | |
| mesh[29].descriptor_name | Retrospective Studies |
| mesh[30].qualifier_ui | Q000379 |
| mesh[30].descriptor_ui | D017422 |
| mesh[30].is_major_topic | False |
| mesh[30].qualifier_name | methods |
| mesh[30].descriptor_name | Sequence Analysis, DNA |
| mesh[31].qualifier_ui | |
| mesh[31].descriptor_ui | D012984 |
| mesh[31].is_major_topic | False |
| mesh[31].qualifier_name | |
| mesh[31].descriptor_name | Software |
| mesh[32].qualifier_ui | |
| mesh[32].descriptor_ui | D000465 |
| mesh[32].is_major_topic | True |
| mesh[32].qualifier_name | |
| mesh[32].descriptor_name | Algorithms |
| mesh[33].qualifier_ui | Q000175 |
| mesh[33].descriptor_ui | D030342 |
| mesh[33].is_major_topic | False |
| mesh[33].qualifier_name | diagnosis |
| mesh[33].descriptor_name | Genetic Diseases, Inborn |
| mesh[34].qualifier_ui | Q000235 |
| mesh[34].descriptor_ui | D030342 |
| mesh[34].is_major_topic | False |
| mesh[34].qualifier_name | genetics |
| mesh[34].descriptor_name | Genetic Diseases, Inborn |
| mesh[35].qualifier_ui | |
| mesh[35].descriptor_ui | D020022 |
| mesh[35].is_major_topic | False |
| mesh[35].qualifier_name | |
| mesh[35].descriptor_name | Genetic Predisposition to Disease |
| mesh[36].qualifier_ui | |
| mesh[36].descriptor_ui | D015894 |
| mesh[36].is_major_topic | False |
| mesh[36].qualifier_name | |
| mesh[36].descriptor_name | Genome, Human |
| mesh[37].qualifier_ui | Q000379 |
| mesh[37].descriptor_ui | D023281 |
| mesh[37].is_major_topic | False |
| mesh[37].qualifier_name | methods |
| mesh[37].descriptor_name | Genomics |
| mesh[38].qualifier_ui | |
| mesh[38].descriptor_ui | D006801 |
| mesh[38].is_major_topic | False |
| mesh[38].qualifier_name | |
| mesh[38].descriptor_name | Humans |
| mesh[39].qualifier_ui | |
| mesh[39].descriptor_ui | D009154 |
| mesh[39].is_major_topic | True |
| mesh[39].qualifier_name | |
| mesh[39].descriptor_name | Mutation |
| mesh[40].qualifier_ui | |
| mesh[40].descriptor_ui | D010641 |
| mesh[40].is_major_topic | False |
| mesh[40].qualifier_name | |
| mesh[40].descriptor_name | Phenotype |
| mesh[41].qualifier_ui | |
| mesh[41].descriptor_ui | D011110 |
| mesh[41].is_major_topic | False |
| mesh[41].qualifier_name | |
| mesh[41].descriptor_name | Polymorphism, Genetic |
| mesh[42].qualifier_ui | Q000379 |
| mesh[42].descriptor_ui | D057285 |
| mesh[42].is_major_topic | False |
| mesh[42].qualifier_name | methods |
| mesh[42].descriptor_name | Precision Medicine |
| mesh[43].qualifier_ui | Q000175 |
| mesh[43].descriptor_ui | D035583 |
| mesh[43].is_major_topic | False |
| mesh[43].qualifier_name | diagnosis |
| mesh[43].descriptor_name | Rare Diseases |
| mesh[44].qualifier_ui | Q000235 |
| mesh[44].descriptor_ui | D035583 |
| mesh[44].is_major_topic | False |
| mesh[44].qualifier_name | genetics |
| mesh[44].descriptor_name | Rare Diseases |
| mesh[45].qualifier_ui | |
| mesh[45].descriptor_ui | D012189 |
| mesh[45].is_major_topic | False |
| mesh[45].qualifier_name | |
| mesh[45].descriptor_name | Retrospective Studies |
| mesh[46].qualifier_ui | Q000379 |
| mesh[46].descriptor_ui | D017422 |
| mesh[46].is_major_topic | False |
| mesh[46].qualifier_name | methods |
| mesh[46].descriptor_name | Sequence Analysis, DNA |
| mesh[47].qualifier_ui | |
| mesh[47].descriptor_ui | D012984 |
| mesh[47].is_major_topic | False |
| mesh[47].qualifier_name | |
| mesh[47].descriptor_name | Software |
| type | article |
| title | VarSight: prioritizing clinically reported variants with binary classification algorithms |
| awards[0].id | https://openalex.org/G3860000421 |
| awards[0].funder_id | https://openalex.org/F4320337348 |
| awards[0].display_name | |
| awards[0].funder_award_id | U01HG007943 |
| awards[0].funder_display_name | National Human Genome Research Institute |
| biblio.issue | 1 |
| biblio.volume | 20 |
| biblio.last_page | 496 |
| biblio.first_page | 496 |
| topics[0].id | https://openalex.org/T11642 |
| topics[0].field.id | https://openalex.org/fields/13 |
| topics[0].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[0].score | 0.9997000098228455 |
| topics[0].domain.id | https://openalex.org/domains/1 |
| topics[0].domain.display_name | Life Sciences |
| topics[0].subfield.id | https://openalex.org/subfields/1311 |
| topics[0].subfield.display_name | Genetics |
| topics[0].display_name | Genomics and Rare Diseases |
| topics[1].id | https://openalex.org/T10261 |
| topics[1].field.id | https://openalex.org/fields/13 |
| topics[1].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[1].score | 0.988099992275238 |
| topics[1].domain.id | https://openalex.org/domains/1 |
| topics[1].domain.display_name | Life Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/1311 |
| topics[1].subfield.display_name | Genetics |
| topics[1].display_name | Genetic Associations and Epidemiology |
| topics[2].id | https://openalex.org/T11287 |
| topics[2].field.id | https://openalex.org/fields/13 |
| topics[2].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[2].score | 0.9878000020980835 |
| topics[2].domain.id | https://openalex.org/domains/1 |
| topics[2].domain.display_name | Life Sciences |
| topics[2].subfield.id | https://openalex.org/subfields/1306 |
| topics[2].subfield.display_name | Cancer Research |
| topics[2].display_name | Cancer Genomics and Diagnostics |
| funders[0].id | https://openalex.org/F4320337348 |
| funders[0].ror | https://ror.org/00baak391 |
| funders[0].display_name | National Human Genome Research Institute |
| is_xpac | False |
| apc_list.value | 1690 |
| apc_list.currency | GBP |
| apc_list.value_usd | 2072 |
| apc_paid.value | 1690 |
| apc_paid.currency | GBP |
| apc_paid.value_usd | 2072 |
| concepts[0].id | https://openalex.org/C2777615720 |
| concepts[0].level | 2 |
| concepts[0].score | 0.6769553422927856 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q11888847 |
| concepts[0].display_name | Prioritization |
| concepts[1].id | https://openalex.org/C66905080 |
| concepts[1].level | 3 |
| concepts[1].score | 0.5266033411026001 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q17005494 |
| concepts[1].display_name | Binary classification |
| concepts[2].id | https://openalex.org/C189430467 |
| concepts[2].level | 2 |
| concepts[2].score | 0.5130130648612976 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q7293293 |
| concepts[2].display_name | Ranking (information retrieval) |
| concepts[3].id | https://openalex.org/C95371953 |
| concepts[3].level | 4 |
| concepts[3].score | 0.48787808418273926 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q591745 |
| concepts[3].display_name | DNA microarray |
| concepts[4].id | https://openalex.org/C2779134260 |
| concepts[4].level | 2 |
| concepts[4].score | 0.4800485372543335 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q12136 |
| concepts[4].display_name | Disease |
| concepts[5].id | https://openalex.org/C41008148 |
| concepts[5].level | 0 |
| concepts[5].score | 0.47302746772766113 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q21198 |
| concepts[5].display_name | Computer science |
| concepts[6].id | https://openalex.org/C119857082 |
| concepts[6].level | 1 |
| concepts[6].score | 0.46405258774757385 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q2539 |
| concepts[6].display_name | Machine learning |
| concepts[7].id | https://openalex.org/C127716648 |
| concepts[7].level | 3 |
| concepts[7].score | 0.46282893419265747 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q104053 |
| concepts[7].display_name | Phenotype |
| concepts[8].id | https://openalex.org/C163763905 |
| concepts[8].level | 2 |
| concepts[8].score | 0.4559531509876251 |
| concepts[8].wikidata | https://www.wikidata.org/wiki/Q17075943 |
| concepts[8].display_name | Precision medicine |
| concepts[9].id | https://openalex.org/C154945302 |
| concepts[9].level | 1 |
| concepts[9].score | 0.455030232667923 |
| concepts[9].wikidata | https://www.wikidata.org/wiki/Q11660 |
| concepts[9].display_name | Artificial intelligence |
| concepts[10].id | https://openalex.org/C70721500 |
| concepts[10].level | 1 |
| concepts[10].score | 0.44719600677490234 |
| concepts[10].wikidata | https://www.wikidata.org/wiki/Q177005 |
| concepts[10].display_name | Computational biology |
| concepts[11].id | https://openalex.org/C2776321320 |
| concepts[11].level | 2 |
| concepts[11].score | 0.41465693712234497 |
| concepts[11].wikidata | https://www.wikidata.org/wiki/Q857525 |
| concepts[11].display_name | Annotation |
| concepts[12].id | https://openalex.org/C189206191 |
| concepts[12].level | 4 |
| concepts[12].score | 0.4130558371543884 |
| concepts[12].wikidata | https://www.wikidata.org/wiki/Q222046 |
| concepts[12].display_name | Genomics |
| concepts[13].id | https://openalex.org/C71924100 |
| concepts[13].level | 0 |
| concepts[13].score | 0.2716107964515686 |
| concepts[13].wikidata | https://www.wikidata.org/wiki/Q11190 |
| concepts[13].display_name | Medicine |
| concepts[14].id | https://openalex.org/C86803240 |
| concepts[14].level | 0 |
| concepts[14].score | 0.22563564777374268 |
| concepts[14].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[14].display_name | Biology |
| concepts[15].id | https://openalex.org/C54355233 |
| concepts[15].level | 1 |
| concepts[15].score | 0.2074507772922516 |
| concepts[15].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[15].display_name | Genetics |
| concepts[16].id | https://openalex.org/C141231307 |
| concepts[16].level | 3 |
| concepts[16].score | 0.13676950335502625 |
| concepts[16].wikidata | https://www.wikidata.org/wiki/Q7020 |
| concepts[16].display_name | Genome |
| concepts[17].id | https://openalex.org/C104317684 |
| concepts[17].level | 2 |
| concepts[17].score | 0.11691358685493469 |
| concepts[17].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[17].display_name | Gene |
| concepts[18].id | https://openalex.org/C12267149 |
| concepts[18].level | 2 |
| concepts[18].score | 0.10552966594696045 |
| concepts[18].wikidata | https://www.wikidata.org/wiki/Q282453 |
| concepts[18].display_name | Support vector machine |
| concepts[19].id | https://openalex.org/C142724271 |
| concepts[19].level | 1 |
| concepts[19].score | 0.1003212034702301 |
| concepts[19].wikidata | https://www.wikidata.org/wiki/Q7208 |
| concepts[19].display_name | Pathology |
| concepts[20].id | https://openalex.org/C150194340 |
| concepts[20].level | 3 |
| concepts[20].score | 0.0 |
| concepts[20].wikidata | https://www.wikidata.org/wiki/Q26972 |
| concepts[20].display_name | Gene expression |
| concepts[21].id | https://openalex.org/C162324750 |
| concepts[21].level | 0 |
| concepts[21].score | 0.0 |
| concepts[21].wikidata | https://www.wikidata.org/wiki/Q8134 |
| concepts[21].display_name | Economics |
| concepts[22].id | https://openalex.org/C539667460 |
| concepts[22].level | 1 |
| concepts[22].score | 0.0 |
| concepts[22].wikidata | https://www.wikidata.org/wiki/Q2414942 |
| concepts[22].display_name | Management science |
| keywords[0].id | https://openalex.org/keywords/prioritization |
| keywords[0].score | 0.6769553422927856 |
| keywords[0].display_name | Prioritization |
| keywords[1].id | https://openalex.org/keywords/binary-classification |
| keywords[1].score | 0.5266033411026001 |
| keywords[1].display_name | Binary classification |
| keywords[2].id | https://openalex.org/keywords/ranking |
| keywords[2].score | 0.5130130648612976 |
| keywords[2].display_name | Ranking (information retrieval) |
| keywords[3].id | https://openalex.org/keywords/dna-microarray |
| keywords[3].score | 0.48787808418273926 |
| keywords[3].display_name | DNA microarray |
| keywords[4].id | https://openalex.org/keywords/disease |
| keywords[4].score | 0.4800485372543335 |
| keywords[4].display_name | Disease |
| keywords[5].id | https://openalex.org/keywords/computer-science |
| keywords[5].score | 0.47302746772766113 |
| keywords[5].display_name | Computer science |
| keywords[6].id | https://openalex.org/keywords/machine-learning |
| keywords[6].score | 0.46405258774757385 |
| keywords[6].display_name | Machine learning |
| keywords[7].id | https://openalex.org/keywords/phenotype |
| keywords[7].score | 0.46282893419265747 |
| keywords[7].display_name | Phenotype |
| keywords[8].id | https://openalex.org/keywords/precision-medicine |
| keywords[8].score | 0.4559531509876251 |
| keywords[8].display_name | Precision medicine |
| keywords[9].id | https://openalex.org/keywords/artificial-intelligence |
| keywords[9].score | 0.455030232667923 |
| keywords[9].display_name | Artificial intelligence |
| keywords[10].id | https://openalex.org/keywords/computational-biology |
| keywords[10].score | 0.44719600677490234 |
| keywords[10].display_name | Computational biology |
| keywords[11].id | https://openalex.org/keywords/annotation |
| keywords[11].score | 0.41465693712234497 |
| keywords[11].display_name | Annotation |
| keywords[12].id | https://openalex.org/keywords/genomics |
| keywords[12].score | 0.4130558371543884 |
| keywords[12].display_name | Genomics |
| keywords[13].id | https://openalex.org/keywords/medicine |
| keywords[13].score | 0.2716107964515686 |
| keywords[13].display_name | Medicine |
| keywords[14].id | https://openalex.org/keywords/biology |
| keywords[14].score | 0.22563564777374268 |
| keywords[14].display_name | Biology |
| keywords[15].id | https://openalex.org/keywords/genetics |
| keywords[15].score | 0.2074507772922516 |
| keywords[15].display_name | Genetics |
| keywords[16].id | https://openalex.org/keywords/genome |
| keywords[16].score | 0.13676950335502625 |
| keywords[16].display_name | Genome |
| keywords[17].id | https://openalex.org/keywords/gene |
| keywords[17].score | 0.11691358685493469 |
| keywords[17].display_name | Gene |
| keywords[18].id | https://openalex.org/keywords/support-vector-machine |
| keywords[18].score | 0.10552966594696045 |
| keywords[18].display_name | Support vector machine |
| keywords[19].id | https://openalex.org/keywords/pathology |
| keywords[19].score | 0.1003212034702301 |
| keywords[19].display_name | Pathology |
| language | en |
| locations[0].id | doi:10.1186/s12859-019-3026-8 |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S19032547 |
| locations[0].source.issn | 1471-2105 |
| locations[0].source.type | journal |
| locations[0].source.is_oa | True |
| locations[0].source.issn_l | 1471-2105 |
| locations[0].source.is_core | True |
| locations[0].source.is_in_doaj | True |
| locations[0].source.display_name | BMC Bioinformatics |
| locations[0].source.host_organization | https://openalex.org/P4310320256 |
| locations[0].source.host_organization_name | BioMed Central |
| locations[0].source.host_organization_lineage | https://openalex.org/P4310320256, https://openalex.org/P4310319965 |
| locations[0].source.host_organization_lineage_names | BioMed Central, Springer Nature |
| locations[0].license | cc-by |
| locations[0].pdf_url | https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-019-3026-8 |
| locations[0].version | publishedVersion |
| locations[0].raw_type | journal-article |
| locations[0].license_id | https://openalex.org/licenses/cc-by |
| locations[0].is_accepted | True |
| locations[0].is_published | True |
| locations[0].raw_source_name | BMC Bioinformatics |
| locations[0].landing_page_url | https://doi.org/10.1186/s12859-019-3026-8 |
| locations[1].id | pmid:31615419 |
| locations[1].is_oa | False |
| locations[1].source.id | https://openalex.org/S4306525036 |
| locations[1].source.issn | |
| locations[1].source.type | repository |
| locations[1].source.is_oa | False |
| locations[1].source.issn_l | |
| locations[1].source.is_core | False |
| locations[1].source.is_in_doaj | False |
| locations[1].source.display_name | PubMed |
| locations[1].source.host_organization | https://openalex.org/I1299303238 |
| locations[1].source.host_organization_name | National Institutes of Health |
| locations[1].source.host_organization_lineage | https://openalex.org/I1299303238 |
| locations[1].license | |
| locations[1].pdf_url | |
| locations[1].version | publishedVersion |
| locations[1].raw_type | |
| locations[1].license_id | |
| locations[1].is_accepted | True |
| locations[1].is_published | True |
| locations[1].raw_source_name | BMC bioinformatics |
| locations[1].landing_page_url | https://pubmed.ncbi.nlm.nih.gov/31615419 |
| locations[2].id | pmh:oai:doaj.org/article:f2c1bb0577154d0199fe50d36a271be4 |
| locations[2].is_oa | True |
| locations[2].source.id | https://openalex.org/S4306401280 |
| locations[2].source.issn | |
| locations[2].source.type | repository |
| locations[2].source.is_oa | False |
| locations[2].source.issn_l | |
| locations[2].source.is_core | False |
| locations[2].source.is_in_doaj | False |
| locations[2].source.display_name | DOAJ (DOAJ: Directory of Open Access Journals) |
| locations[2].source.host_organization | |
| locations[2].source.host_organization_name | |
| locations[2].license | cc-by-sa |
| locations[2].pdf_url | |
| locations[2].version | submittedVersion |
| locations[2].raw_type | article |
| locations[2].license_id | https://openalex.org/licenses/cc-by-sa |
| locations[2].is_accepted | False |
| locations[2].is_published | False |
| locations[2].raw_source_name | BMC Bioinformatics, Vol 20, Iss 1, Pp 1-10 (2019) |
| locations[2].landing_page_url | https://doaj.org/article/f2c1bb0577154d0199fe50d36a271be4 |
| locations[3].id | pmh:oai:escholarship.org:ark:/13030/qt2w13c735 |
| locations[3].is_oa | True |
| locations[3].source | |
| locations[3].license | cc-by |
| locations[3].pdf_url | |
| locations[3].version | submittedVersion |
| locations[3].raw_type | article |
| locations[3].license_id | https://openalex.org/licenses/cc-by |
| locations[3].is_accepted | False |
| locations[3].is_published | False |
| locations[3].raw_source_name | BMC Bioinformatics, vol 20, iss 1 |
| locations[3].landing_page_url | https://escholarship.org/uc/item/2w13c735 |
| locations[4].id | pmh:oai:pubmedcentral.nih.gov:6792253 |
| locations[4].is_oa | True |
| locations[4].source.id | https://openalex.org/S2764455111 |
| locations[4].source.issn | |
| locations[4].source.type | repository |
| locations[4].source.is_oa | False |
| locations[4].source.issn_l | |
| locations[4].source.is_core | False |
| locations[4].source.is_in_doaj | False |
| locations[4].source.display_name | PubMed Central |
| locations[4].source.host_organization | https://openalex.org/I1299303238 |
| locations[4].source.host_organization_name | National Institutes of Health |
| locations[4].source.host_organization_lineage | https://openalex.org/I1299303238 |
| locations[4].license | other-oa |
| locations[4].pdf_url | |
| locations[4].version | submittedVersion |
| locations[4].raw_type | Text |
| locations[4].license_id | https://openalex.org/licenses/other-oa |
| locations[4].is_accepted | False |
| locations[4].is_published | False |
| locations[4].raw_source_name | BMC Bioinformatics |
| locations[4].landing_page_url | https://www.ncbi.nlm.nih.gov/pmc/articles/6792253 |
| indexed_in | crossref, doaj, pubmed |
| authorships[0].author.id | https://openalex.org/A5071742303 |
| authorships[0].author.orcid | https://orcid.org/0000-0001-6411-9236 |
| authorships[0].author.display_name | James Holt |
| authorships[0].countries | US |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I4210145894 |
| authorships[0].affiliations[0].raw_affiliation_string | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[0].institutions[0].id | https://openalex.org/I4210145894 |
| authorships[0].institutions[0].ror | https://ror.org/04nz0wq19 |
| authorships[0].institutions[0].type | nonprofit |
| authorships[0].institutions[0].lineage | https://openalex.org/I4210145894 |
| authorships[0].institutions[0].country_code | US |
| authorships[0].institutions[0].display_name | HudsonAlpha Institute for Biotechnology |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | James M. Holt |
| authorships[0].is_corresponding | False |
| authorships[0].raw_affiliation_strings | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[1].author.id | https://openalex.org/A5001809357 |
| authorships[1].author.orcid | https://orcid.org/0000-0002-4110-2324 |
| authorships[1].author.display_name | Brandon Wilk |
| authorships[1].countries | US |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I4210145894 |
| authorships[1].affiliations[0].raw_affiliation_string | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[1].institutions[0].id | https://openalex.org/I4210145894 |
| authorships[1].institutions[0].ror | https://ror.org/04nz0wq19 |
| authorships[1].institutions[0].type | nonprofit |
| authorships[1].institutions[0].lineage | https://openalex.org/I4210145894 |
| authorships[1].institutions[0].country_code | US |
| authorships[1].institutions[0].display_name | HudsonAlpha Institute for Biotechnology |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Brandon Wilk |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[2].author.id | https://openalex.org/A5088254423 |
| authorships[2].author.orcid | |
| authorships[2].author.display_name | Camille L. Birch |
| authorships[2].countries | US |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I4210145894 |
| authorships[2].affiliations[0].raw_affiliation_string | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[2].institutions[0].id | https://openalex.org/I4210145894 |
| authorships[2].institutions[0].ror | https://ror.org/04nz0wq19 |
| authorships[2].institutions[0].type | nonprofit |
| authorships[2].institutions[0].lineage | https://openalex.org/I4210145894 |
| authorships[2].institutions[0].country_code | US |
| authorships[2].institutions[0].display_name | HudsonAlpha Institute for Biotechnology |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Camille L. Birch |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[3].author.id | https://openalex.org/A5101655643 |
| authorships[3].author.orcid | https://orcid.org/0000-0002-8805-7225 |
| authorships[3].author.display_name | Donna M. Brown |
| authorships[3].countries | US |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I4210145894 |
| authorships[3].affiliations[0].raw_affiliation_string | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[3].institutions[0].id | https://openalex.org/I4210145894 |
| authorships[3].institutions[0].ror | https://ror.org/04nz0wq19 |
| authorships[3].institutions[0].type | nonprofit |
| authorships[3].institutions[0].lineage | https://openalex.org/I4210145894 |
| authorships[3].institutions[0].country_code | US |
| authorships[3].institutions[0].display_name | HudsonAlpha Institute for Biotechnology |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Donna M. Brown |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[4].author.id | https://openalex.org/A5086465438 |
| authorships[4].author.orcid | https://orcid.org/0000-0002-8606-0113 |
| authorships[4].author.display_name | Manavalan Gajapathy |
| authorships[4].countries | US |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I4210145894 |
| authorships[4].affiliations[0].raw_affiliation_string | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[4].institutions[0].id | https://openalex.org/I4210145894 |
| authorships[4].institutions[0].ror | https://ror.org/04nz0wq19 |
| authorships[4].institutions[0].type | nonprofit |
| authorships[4].institutions[0].lineage | https://openalex.org/I4210145894 |
| authorships[4].institutions[0].country_code | US |
| authorships[4].institutions[0].display_name | HudsonAlpha Institute for Biotechnology |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Manavalan Gajapathy |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[5].author.id | https://openalex.org/A5027552564 |
| authorships[5].author.orcid | https://orcid.org/0000-0001-5432-9133 |
| authorships[5].author.display_name | Alexander C. Moss |
| authorships[5].countries | US |
| authorships[5].affiliations[0].institution_ids | https://openalex.org/I4210145894 |
| authorships[5].affiliations[0].raw_affiliation_string | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[5].institutions[0].id | https://openalex.org/I4210145894 |
| authorships[5].institutions[0].ror | https://ror.org/04nz0wq19 |
| authorships[5].institutions[0].type | nonprofit |
| authorships[5].institutions[0].lineage | https://openalex.org/I4210145894 |
| authorships[5].institutions[0].country_code | US |
| authorships[5].institutions[0].display_name | HudsonAlpha Institute for Biotechnology |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Alexander C. Moss |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[6].author.id | https://openalex.org/A5027756488 |
| authorships[6].author.orcid | https://orcid.org/0009-0006-2901-0861 |
| authorships[6].author.display_name | Nadiya Sosonkina |
| authorships[6].countries | US |
| authorships[6].affiliations[0].institution_ids | https://openalex.org/I4210145894 |
| authorships[6].affiliations[0].raw_affiliation_string | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[6].institutions[0].id | https://openalex.org/I4210145894 |
| authorships[6].institutions[0].ror | https://ror.org/04nz0wq19 |
| authorships[6].institutions[0].type | nonprofit |
| authorships[6].institutions[0].lineage | https://openalex.org/I4210145894 |
| authorships[6].institutions[0].country_code | US |
| authorships[6].institutions[0].display_name | HudsonAlpha Institute for Biotechnology |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Nadiya Sosonkina |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[7].author.id | https://openalex.org/A5051042342 |
| authorships[7].author.orcid | |
| authorships[7].author.display_name | Melissa A. Wilk |
| authorships[7].countries | US |
| authorships[7].affiliations[0].institution_ids | https://openalex.org/I4210145894 |
| authorships[7].affiliations[0].raw_affiliation_string | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[7].institutions[0].id | https://openalex.org/I4210145894 |
| authorships[7].institutions[0].ror | https://ror.org/04nz0wq19 |
| authorships[7].institutions[0].type | nonprofit |
| authorships[7].institutions[0].lineage | https://openalex.org/I4210145894 |
| authorships[7].institutions[0].country_code | US |
| authorships[7].institutions[0].display_name | HudsonAlpha Institute for Biotechnology |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Melissa A. Wilk |
| authorships[7].is_corresponding | False |
| authorships[7].raw_affiliation_strings | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[8].author.id | https://openalex.org/A5063907950 |
| authorships[8].author.orcid | https://orcid.org/0000-0003-1313-9725 |
| authorships[8].author.display_name | Julie A. Anderson |
| authorships[8].countries | US |
| authorships[8].affiliations[0].institution_ids | https://openalex.org/I4210145894 |
| authorships[8].affiliations[0].raw_affiliation_string | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[8].institutions[0].id | https://openalex.org/I4210145894 |
| authorships[8].institutions[0].ror | https://ror.org/04nz0wq19 |
| authorships[8].institutions[0].type | nonprofit |
| authorships[8].institutions[0].lineage | https://openalex.org/I4210145894 |
| authorships[8].institutions[0].country_code | US |
| authorships[8].institutions[0].display_name | HudsonAlpha Institute for Biotechnology |
| authorships[8].author_position | middle |
| authorships[8].raw_author_name | Julie A. Anderson |
| authorships[8].is_corresponding | False |
| authorships[8].raw_affiliation_strings | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[9].author.id | https://openalex.org/A5085133168 |
| authorships[9].author.orcid | |
| authorships[9].author.display_name | Jeremy M. Harris |
| authorships[9].countries | US |
| authorships[9].affiliations[0].institution_ids | https://openalex.org/I4210145894 |
| authorships[9].affiliations[0].raw_affiliation_string | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[9].institutions[0].id | https://openalex.org/I4210145894 |
| authorships[9].institutions[0].ror | https://ror.org/04nz0wq19 |
| authorships[9].institutions[0].type | nonprofit |
| authorships[9].institutions[0].lineage | https://openalex.org/I4210145894 |
| authorships[9].institutions[0].country_code | US |
| authorships[9].institutions[0].display_name | HudsonAlpha Institute for Biotechnology |
| authorships[9].author_position | middle |
| authorships[9].raw_author_name | Jeremy M. Harris |
| authorships[9].is_corresponding | False |
| authorships[9].raw_affiliation_strings | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[10].author.id | https://openalex.org/A5113064278 |
| authorships[10].author.orcid | |
| authorships[10].author.display_name | Jacob M. Kelly |
| authorships[10].countries | US |
| authorships[10].affiliations[0].institution_ids | https://openalex.org/I4210145894 |
| authorships[10].affiliations[0].raw_affiliation_string | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[10].institutions[0].id | https://openalex.org/I4210145894 |
| authorships[10].institutions[0].ror | https://ror.org/04nz0wq19 |
| authorships[10].institutions[0].type | nonprofit |
| authorships[10].institutions[0].lineage | https://openalex.org/I4210145894 |
| authorships[10].institutions[0].country_code | US |
| authorships[10].institutions[0].display_name | HudsonAlpha Institute for Biotechnology |
| authorships[10].author_position | middle |
| authorships[10].raw_author_name | Jacob M. Kelly |
| authorships[10].is_corresponding | False |
| authorships[10].raw_affiliation_strings | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[11].author.id | https://openalex.org/A5109414354 |
| authorships[11].author.orcid | |
| authorships[11].author.display_name | Fariba Shaterferdosian |
| authorships[11].countries | US |
| authorships[11].affiliations[0].institution_ids | https://openalex.org/I4210145894 |
| authorships[11].affiliations[0].raw_affiliation_string | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[11].institutions[0].id | https://openalex.org/I4210145894 |
| authorships[11].institutions[0].ror | https://ror.org/04nz0wq19 |
| authorships[11].institutions[0].type | nonprofit |
| authorships[11].institutions[0].lineage | https://openalex.org/I4210145894 |
| authorships[11].institutions[0].country_code | US |
| authorships[11].institutions[0].display_name | HudsonAlpha Institute for Biotechnology |
| authorships[11].author_position | middle |
| authorships[11].raw_author_name | Fariba Shaterferdosian |
| authorships[11].is_corresponding | False |
| authorships[11].raw_affiliation_strings | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[12].author.id | https://openalex.org/A5054619696 |
| authorships[12].author.orcid | https://orcid.org/0000-0002-4631-9135 |
| authorships[12].author.display_name | Angelina Uno-Antonison |
| authorships[12].countries | US |
| authorships[12].affiliations[0].institution_ids | https://openalex.org/I4210145894 |
| authorships[12].affiliations[0].raw_affiliation_string | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[12].institutions[0].id | https://openalex.org/I4210145894 |
| authorships[12].institutions[0].ror | https://ror.org/04nz0wq19 |
| authorships[12].institutions[0].type | nonprofit |
| authorships[12].institutions[0].lineage | https://openalex.org/I4210145894 |
| authorships[12].institutions[0].country_code | US |
| authorships[12].institutions[0].display_name | HudsonAlpha Institute for Biotechnology |
| authorships[12].author_position | middle |
| authorships[12].raw_author_name | Angelina E. Uno-Antonison |
| authorships[12].is_corresponding | False |
| authorships[12].raw_affiliation_strings | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[13].author.id | https://openalex.org/A5021385848 |
| authorships[13].author.orcid | |
| authorships[13].author.display_name | Arthur Weborg |
| authorships[13].countries | US |
| authorships[13].affiliations[0].institution_ids | https://openalex.org/I4210145894 |
| authorships[13].affiliations[0].raw_affiliation_string | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[13].institutions[0].id | https://openalex.org/I4210145894 |
| authorships[13].institutions[0].ror | https://ror.org/04nz0wq19 |
| authorships[13].institutions[0].type | nonprofit |
| authorships[13].institutions[0].lineage | https://openalex.org/I4210145894 |
| authorships[13].institutions[0].country_code | US |
| authorships[13].institutions[0].display_name | HudsonAlpha Institute for Biotechnology |
| authorships[13].author_position | middle |
| authorships[13].raw_author_name | Arthur Weborg |
| authorships[13].is_corresponding | False |
| authorships[13].raw_affiliation_strings | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[14].author.id | https://openalex.org/A5006311402 |
| authorships[14].author.orcid | https://orcid.org/0000-0003-4083-7764 |
| authorships[14].author.display_name | Elizabeth A. Worthey |
| authorships[14].countries | US |
| authorships[14].affiliations[0].institution_ids | https://openalex.org/I4210145894 |
| authorships[14].affiliations[0].raw_affiliation_string | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| authorships[14].institutions[0].id | https://openalex.org/I4210145894 |
| authorships[14].institutions[0].ror | https://ror.org/04nz0wq19 |
| authorships[14].institutions[0].type | nonprofit |
| authorships[14].institutions[0].lineage | https://openalex.org/I4210145894 |
| authorships[14].institutions[0].country_code | US |
| authorships[14].institutions[0].display_name | HudsonAlpha Institute for Biotechnology |
| authorships[14].author_position | last |
| authorships[14].raw_author_name | Elizabeth A. Worthey |
| authorships[14].is_corresponding | False |
| authorships[14].raw_affiliation_strings | HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA |
| has_content.pdf | True |
| has_content.grobid_xml | True |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-019-3026-8 |
| open_access.oa_status | gold |
| open_access.any_repository_has_fulltext | False |
| created_date | 2025-10-10T00:00:00 |
| display_name | VarSight: prioritizing clinically reported variants with binary classification algorithms |
| has_fulltext | False |
| is_retracted | False |
| updated_date | 2025-11-23T05:10:03.516525 |
| primary_topic.id | https://openalex.org/T11642 |
| primary_topic.field.id | https://openalex.org/fields/13 |
| primary_topic.field.display_name | Biochemistry, Genetics and Molecular Biology |
| primary_topic.score | 0.9997000098228455 |
| primary_topic.domain.id | https://openalex.org/domains/1 |
| primary_topic.domain.display_name | Life Sciences |
| primary_topic.subfield.id | https://openalex.org/subfields/1311 |
| primary_topic.subfield.display_name | Genetics |
| primary_topic.display_name | Genomics and Rare Diseases |
| related_works | https://openalex.org/W2361861616, https://openalex.org/W2263699433, https://openalex.org/W2377979023, https://openalex.org/W2218034408, https://openalex.org/W2392921965, https://openalex.org/W2358755282, https://openalex.org/W4283209547, https://openalex.org/W2625833328, https://openalex.org/W1533177136, https://openalex.org/W4380994516 |
| cited_by_count | 19 |
| counts_by_year[0].year | 2025 |
| counts_by_year[0].cited_by_count | 1 |
| counts_by_year[1].year | 2024 |
| counts_by_year[1].cited_by_count | 4 |
| counts_by_year[2].year | 2023 |
| counts_by_year[2].cited_by_count | 3 |
| counts_by_year[3].year | 2022 |
| counts_by_year[3].cited_by_count | 4 |
| counts_by_year[4].year | 2021 |
| counts_by_year[4].cited_by_count | 3 |
| counts_by_year[5].year | 2020 |
| counts_by_year[5].cited_by_count | 2 |
| counts_by_year[6].year | 2019 |
| counts_by_year[6].cited_by_count | 2 |
| locations_count | 5 |
| best_oa_location.id | doi:10.1186/s12859-019-3026-8 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S19032547 |
| best_oa_location.source.issn | 1471-2105 |
| best_oa_location.source.type | journal |
| best_oa_location.source.is_oa | True |
| best_oa_location.source.issn_l | 1471-2105 |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | True |
| best_oa_location.source.display_name | BMC Bioinformatics |
| best_oa_location.source.host_organization | https://openalex.org/P4310320256 |
| best_oa_location.source.host_organization_name | BioMed Central |
| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310320256, https://openalex.org/P4310319965 |
| best_oa_location.source.host_organization_lineage_names | BioMed Central, Springer Nature |
| best_oa_location.license | cc-by |
| best_oa_location.pdf_url | https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-019-3026-8 |
| best_oa_location.version | publishedVersion |
| best_oa_location.raw_type | journal-article |
| best_oa_location.license_id | https://openalex.org/licenses/cc-by |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | True |
| best_oa_location.raw_source_name | BMC Bioinformatics |
| best_oa_location.landing_page_url | https://doi.org/10.1186/s12859-019-3026-8 |
| primary_location.id | doi:10.1186/s12859-019-3026-8 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S19032547 |
| primary_location.source.issn | 1471-2105 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | True |
| primary_location.source.issn_l | 1471-2105 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | True |
| primary_location.source.display_name | BMC Bioinformatics |
| primary_location.source.host_organization | https://openalex.org/P4310320256 |
| primary_location.source.host_organization_name | BioMed Central |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310320256, https://openalex.org/P4310319965 |
| primary_location.source.host_organization_lineage_names | BioMed Central, Springer Nature |
| primary_location.license | cc-by |
| primary_location.pdf_url | https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-019-3026-8 |
| primary_location.version | publishedVersion |
| primary_location.raw_type | journal-article |
| primary_location.license_id | https://openalex.org/licenses/cc-by |
| primary_location.is_accepted | True |
| primary_location.is_published | True |
| primary_location.raw_source_name | BMC Bioinformatics |
| primary_location.landing_page_url | https://doi.org/10.1186/s12859-019-3026-8 |
| publication_date | 2019-10-15 |
| publication_year | 2019 |
| referenced_works | https://openalex.org/W2584596997, https://openalex.org/W2883585182, https://openalex.org/W2793512195, https://openalex.org/W2769420359, https://openalex.org/W2057152418, https://openalex.org/W2158336776, https://openalex.org/W1984068087, https://openalex.org/W2115954594, https://openalex.org/W2060996851, https://openalex.org/W2807099429, https://openalex.org/W2256016639, https://openalex.org/W2161978970, https://openalex.org/W1964426200, https://openalex.org/W2141307855, https://openalex.org/W1955518362, https://openalex.org/W2905452503, https://openalex.org/W1980740976, https://openalex.org/W83406085, https://openalex.org/W1563940013, https://openalex.org/W2129952088, https://openalex.org/W2117856964, https://openalex.org/W2010595044, https://openalex.org/W2119412782, https://openalex.org/W2174602966, https://openalex.org/W2012361142, https://openalex.org/W954754213, https://openalex.org/W2848983148, https://openalex.org/W2104008606, https://openalex.org/W2059313072, https://openalex.org/W2246559112, https://openalex.org/W2952128461, https://openalex.org/W1723383946, https://openalex.org/W2558076607, https://openalex.org/W2051978340, https://openalex.org/W6675354045, https://openalex.org/W2521200999, https://openalex.org/W2168133698, https://openalex.org/W2901332105, https://openalex.org/W2766608798, https://openalex.org/W1964670939, https://openalex.org/W2080770151, https://openalex.org/W2069303969, https://openalex.org/W2320983896, https://openalex.org/W2034528478, https://openalex.org/W3140207494, https://openalex.org/W2795007297, https://openalex.org/W4250158252, https://openalex.org/W1829137581, https://openalex.org/W2095680943, https://openalex.org/W1854214752, https://openalex.org/W1509230487, https://openalex.org/W2101234009 |
| referenced_works_count | 52 |
| abstract_inverted_index.a | 7, 52, 111, 121, 129 |
| abstract_inverted_index.To | 123 |
| abstract_inverted_index.We | 93, 147, 167, 199 |
| abstract_inverted_index.as | 151 |
| abstract_inverted_index.be | 79, 115, 208, 232 |
| abstract_inverted_index.in | 47, 62, 82, 141, 194, 214 |
| abstract_inverted_index.is | 14, 30 |
| abstract_inverted_index.of | 38, 45, 60, 68, 85, 89, 97, 184, 190, 217 |
| abstract_inverted_index.on | 132 |
| abstract_inverted_index.or | 18 |
| abstract_inverted_index.to | 6, 15, 56, 78, 120, 138, 158, 210 |
| abstract_inverted_index.we | 127 |
| abstract_inverted_index.20. | 197 |
| abstract_inverted_index.237 | 139 |
| abstract_inverted_index.72% | 183 |
| abstract_inverted_index.94% | 189 |
| abstract_inverted_index.all | 174, 185, 224 |
| abstract_inverted_index.and | 35, 65, 118, 155, 163, 188 |
| abstract_inverted_index.are | 88 |
| abstract_inverted_index.can | 73, 207 |
| abstract_inverted_index.due | 55 |
| abstract_inverted_index.for | 40, 108, 235 |
| abstract_inverted_index.how | 201 |
| abstract_inverted_index.may | 23, 231 |
| abstract_inverted_index.one | 17 |
| abstract_inverted_index.the | 11, 25, 57, 83, 95, 125, 142, 149, 170, 179, 195, 215 |
| abstract_inverted_index.top | 196 |
| abstract_inverted_index.two | 164 |
| abstract_inverted_index.When | 2 |
| abstract_inverted_index.best | 180 |
| abstract_inverted_index.done | 31 |
| abstract_inverted_index.even | 213 |
| abstract_inverted_index.four | 159 |
| abstract_inverted_index.goal | 13 |
| abstract_inverted_index.high | 58 |
| abstract_inverted_index.more | 19 |
| abstract_inverted_index.rare | 8, 48, 239 |
| abstract_inverted_index.real | 238 |
| abstract_inverted_index.such | 86 |
| abstract_inverted_index.task | 54 |
| abstract_inverted_index.test | 124 |
| abstract_inverted_index.that | 22, 72, 100, 134, 169, 229 |
| abstract_inverted_index.them | 157 |
| abstract_inverted_index.then | 36 |
| abstract_inverted_index.they | 230 |
| abstract_inverted_index.this | 29 |
| abstract_inverted_index.used | 209 |
| abstract_inverted_index.well | 233 |
| abstract_inverted_index.were | 135 |
| abstract_inverted_index.will | 113 |
| abstract_inverted_index.with | 105, 178, 237 |
| abstract_inverted_index.Thus, | 70 |
| abstract_inverted_index.along | 104 |
| abstract_inverted_index.other | 175, 225 |
| abstract_inverted_index.study | 131 |
| abstract_inverted_index.these | 221 |
| abstract_inverted_index.and/or | 75 |
| abstract_inverted_index.binary | 204 |
| abstract_inverted_index.degree | 59 |
| abstract_inverted_index.freely | 202 |
| abstract_inverted_index.ingest | 101 |
| abstract_inverted_index.manual | 41 |
| abstract_inverted_index.showed | 168 |
| abstract_inverted_index.source | 67 |
| abstract_inverted_index.suited | 234 |
| abstract_inverted_index.tested | 94, 176, 226 |
| abstract_inverted_index.Methods | 92 |
| abstract_inverted_index.Results | 146 |
| abstract_inverted_index.disease | 9, 49, 240 |
| abstract_inverted_index.explain | 24 |
| abstract_inverted_index.genomic | 4, 20 |
| abstract_inverted_index.methods | 71, 177 |
| abstract_inverted_index.patient | 241 |
| abstract_inverted_index.primary | 12 |
| abstract_inverted_index.ranking | 182 |
| abstract_inverted_index.remains | 51 |
| abstract_inverted_index.systems | 154 |
| abstract_inverted_index.through | 32 |
| abstract_inverted_index.trained | 171 |
| abstract_inverted_index.treated | 148 |
| abstract_inverted_index.variant | 102, 112, 152, 160 |
| abstract_inverted_index.whether | 110 |
| abstract_inverted_index.working | 236 |
| abstract_inverted_index.Abstract | 0 |
| abstract_inverted_index.Diseases | 144 |
| abstract_inverted_index.However, | 43 |
| abstract_inverted_index.Network. | 145 |
| abstract_inverted_index.applying | 3 |
| abstract_inverted_index.compared | 156 |
| abstract_inverted_index.critical | 90 |
| abstract_inverted_index.disease. | 69 |
| abstract_inverted_index.identify | 16, 74 |
| abstract_inverted_index.medicine | 5 |
| abstract_inverted_index.methods, | 227 |
| abstract_inverted_index.patient, | 10 |
| abstract_inverted_index.patient. | 122 |
| abstract_inverted_index.patients | 50, 140 |
| abstract_inverted_index.presence | 84, 216 |
| abstract_inverted_index.reported | 81, 117, 137, 186, 191 |
| abstract_inverted_index.returned | 119 |
| abstract_inverted_index.variants | 21, 39, 46, 77, 133, 187, 193, 212 |
| abstract_inverted_index.available | 203 |
| abstract_inverted_index.controls. | 166 |
| abstract_inverted_index.curation. | 42 |
| abstract_inverted_index.datasets. | 242 |
| abstract_inverted_index.molecular | 66 |
| abstract_inverted_index.performed | 128 |
| abstract_inverted_index.phenotype | 63, 106 |
| abstract_inverted_index.Background | 1 |
| abstract_inverted_index.Typically, | 28 |
| abstract_inverted_index.algorithms | 99, 162, 206 |
| abstract_inverted_index.clinically | 80, 116, 136 |
| abstract_inverted_index.filtering, | 34 |
| abstract_inverted_index.pathogenic | 192 |
| abstract_inverted_index.predicting | 109 |
| abstract_inverted_index.prioritize | 76, 211 |
| abstract_inverted_index.real-world | 218 |
| abstract_inverted_index.suggesting | 228 |
| abstract_inverted_index.ultimately | 114 |
| abstract_inverted_index.Conclusions | 198 |
| abstract_inverted_index.Undiagnosed | 143 |
| abstract_inverted_index.annotation, | 33 |
| abstract_inverted_index.annotations | 103 |
| abstract_inverted_index.application | 96 |
| abstract_inverted_index.challenging | 53 |
| abstract_inverted_index.classifiers | 150, 172, 181, 222 |
| abstract_inverted_index.importance. | 91 |
| abstract_inverted_index.information | 107 |
| abstract_inverted_index.patient’s | 26 |
| abstract_inverted_index.phenotypes. | 27 |
| abstract_inverted_index.variability | 61, 87 |
| abstract_inverted_index.Furthermore, | 220 |
| abstract_inverted_index.classifiers, | 126 |
| abstract_inverted_index.demonstrated | 200 |
| abstract_inverted_index.outperformed | 173, 223 |
| abstract_inverted_index.presentation | 64 |
| abstract_inverted_index.variability. | 219 |
| abstract_inverted_index.retrospective | 130 |
| abstract_inverted_index.classification | 98, 205 |
| abstract_inverted_index.prioritization | 37, 44, 153, 161 |
| abstract_inverted_index.single-measure | 165 |
| cited_by_percentile_year.max | 98 |
| cited_by_percentile_year.min | 91 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 15 |
| citation_normalized_percentile.value | 0.87324527 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |