Non-invasive prenatal testing of beta-hemoglobinopathies using next generation sequencing, in-silico sequence size selection, and haplotyping Article Swipe
M Kellis
,
L J Ko
,
Jiyae Lee
,
K. Eaton
,
Cassandra Calloway
,
Ashutosh Lal
,
Reena Das
,
Manu Jamwal
,
Christian López-Peña
,
Steven J. Mack
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.3325/cmj.2024.65.180
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.3325/cmj.2024.65.180
The combined use of ISS and HBB haplotypes enabled us to correctly predict fetal genotypes in cases where the prediction based on variant read ratios alone was incorrect.
Related Topics
Concepts
Metadata
- Type
- article
- Language
- en
- Landing Page
- http://doi.org/10.3325/cmj.2024.65.180
- OA Status
- diamond
- References
- 27
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4399656507
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4399656507Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.3325/cmj.2024.65.180Digital Object Identifier
- Title
-
Non-invasive prenatal testing of beta-hemoglobinopathies using next generation sequencing, in-silico sequence size selection, and haplotypingWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2024Year of publication
- Publication date
-
2024-06-01Full publication date if available
- Authors
-
M Kellis, L J Ko, Jiyae Lee, K. Eaton, Cassandra Calloway, Ashutosh Lal, Reena Das, Manu Jamwal, Christian López-Peña, Steven J. MackList of authors in order
- Landing page
-
https://doi.org/10.3325/cmj.2024.65.180Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
diamondOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.3325/cmj.2024.65.180Direct OA link when available
- Concepts
-
In silico, Haplotype, DNA sequencing, Computational biology, Selection (genetic algorithm), Beta thalassemia, Biology, Sequence (biology), Genetics, Bioinformatics, Medicine, Computer science, Thalassemia, Gene, Genotype, Machine learningTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
0Total citation count in OpenAlex
- References (count)
-
27Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W4399656507 |
|---|---|
| doi | https://doi.org/10.3325/cmj.2024.65.180 |
| ids.doi | https://doi.org/10.3325/cmj.2024.65.180 |
| ids.pmid | https://pubmed.ncbi.nlm.nih.gov/38868964 |
| ids.openalex | https://openalex.org/W4399656507 |
| fwci | 0.0 |
| mesh[0].qualifier_ui | |
| mesh[0].descriptor_ui | D006801 |
| mesh[0].is_major_topic | False |
| mesh[0].qualifier_name | |
| mesh[0].descriptor_name | Humans |
| mesh[1].qualifier_ui | |
| mesh[1].descriptor_ui | D005260 |
| mesh[1].is_major_topic | False |
| mesh[1].qualifier_name | |
| mesh[1].descriptor_name | Female |
| mesh[2].qualifier_ui | |
| mesh[2].descriptor_ui | D011247 |
| mesh[2].is_major_topic | False |
| mesh[2].qualifier_name | |
| mesh[2].descriptor_name | Pregnancy |
| mesh[3].qualifier_ui | |
| mesh[3].descriptor_ui | D059014 |
| mesh[3].is_major_topic | True |
| mesh[3].qualifier_name | |
| mesh[3].descriptor_name | High-Throughput Nucleotide Sequencing |
| mesh[4].qualifier_ui | |
| mesh[4].descriptor_ui | D006239 |
| mesh[4].is_major_topic | True |
| mesh[4].qualifier_name | |
| mesh[4].descriptor_name | Haplotypes |
| mesh[5].qualifier_ui | |
| mesh[5].descriptor_ui | D020641 |
| mesh[5].is_major_topic | True |
| mesh[5].qualifier_name | |
| mesh[5].descriptor_name | Polymorphism, Single Nucleotide |
| mesh[6].qualifier_ui | Q000379 |
| mesh[6].descriptor_ui | D011296 |
| mesh[6].is_major_topic | False |
| mesh[6].qualifier_name | methods |
| mesh[6].descriptor_name | Prenatal Diagnosis |
| mesh[7].qualifier_ui | Q000235 |
| mesh[7].descriptor_ui | D017086 |
| mesh[7].is_major_topic | False |
| mesh[7].qualifier_name | genetics |
| mesh[7].descriptor_name | beta-Thalassemia |
| mesh[8].qualifier_ui | Q000175 |
| mesh[8].descriptor_ui | D017086 |
| mesh[8].is_major_topic | False |
| mesh[8].qualifier_name | diagnosis |
| mesh[8].descriptor_name | beta-Thalassemia |
| mesh[9].qualifier_ui | |
| mesh[9].descriptor_ui | D000081182 |
| mesh[9].is_major_topic | False |
| mesh[9].qualifier_name | |
| mesh[9].descriptor_name | Noninvasive Prenatal Testing |
| mesh[10].qualifier_ui | Q000235 |
| mesh[10].descriptor_ui | D055544 |
| mesh[10].is_major_topic | False |
| mesh[10].qualifier_name | genetics |
| mesh[10].descriptor_name | beta-Globins |
| mesh[11].qualifier_ui | |
| mesh[11].descriptor_ui | D005838 |
| mesh[11].is_major_topic | False |
| mesh[11].qualifier_name | |
| mesh[11].descriptor_name | Genotype |
| mesh[12].qualifier_ui | Q000235 |
| mesh[12].descriptor_ui | D006453 |
| mesh[12].is_major_topic | False |
| mesh[12].qualifier_name | genetics |
| mesh[12].descriptor_name | Hemoglobinopathies |
| mesh[13].qualifier_ui | Q000175 |
| mesh[13].descriptor_ui | D006453 |
| mesh[13].is_major_topic | False |
| mesh[13].qualifier_name | diagnosis |
| mesh[13].descriptor_name | Hemoglobinopathies |
| mesh[14].qualifier_ui | Q000235 |
| mesh[14].descriptor_ui | D000755 |
| mesh[14].is_major_topic | False |
| mesh[14].qualifier_name | genetics |
| mesh[14].descriptor_name | Anemia, Sickle Cell |
| mesh[15].qualifier_ui | Q000175 |
| mesh[15].descriptor_ui | D000755 |
| mesh[15].is_major_topic | False |
| mesh[15].qualifier_name | diagnosis |
| mesh[15].descriptor_name | Anemia, Sickle Cell |
| mesh[16].qualifier_ui | |
| mesh[16].descriptor_ui | D006801 |
| mesh[16].is_major_topic | False |
| mesh[16].qualifier_name | |
| mesh[16].descriptor_name | Humans |
| mesh[17].qualifier_ui | |
| mesh[17].descriptor_ui | D005260 |
| mesh[17].is_major_topic | False |
| mesh[17].qualifier_name | |
| mesh[17].descriptor_name | Female |
| mesh[18].qualifier_ui | |
| mesh[18].descriptor_ui | D011247 |
| mesh[18].is_major_topic | False |
| mesh[18].qualifier_name | |
| mesh[18].descriptor_name | Pregnancy |
| mesh[19].qualifier_ui | |
| mesh[19].descriptor_ui | D059014 |
| mesh[19].is_major_topic | True |
| mesh[19].qualifier_name | |
| mesh[19].descriptor_name | High-Throughput Nucleotide Sequencing |
| mesh[20].qualifier_ui | |
| mesh[20].descriptor_ui | D006239 |
| mesh[20].is_major_topic | True |
| mesh[20].qualifier_name | |
| mesh[20].descriptor_name | Haplotypes |
| mesh[21].qualifier_ui | |
| mesh[21].descriptor_ui | D020641 |
| mesh[21].is_major_topic | True |
| mesh[21].qualifier_name | |
| mesh[21].descriptor_name | Polymorphism, Single Nucleotide |
| mesh[22].qualifier_ui | Q000379 |
| mesh[22].descriptor_ui | D011296 |
| mesh[22].is_major_topic | False |
| mesh[22].qualifier_name | methods |
| mesh[22].descriptor_name | Prenatal Diagnosis |
| mesh[23].qualifier_ui | Q000235 |
| mesh[23].descriptor_ui | D017086 |
| mesh[23].is_major_topic | False |
| mesh[23].qualifier_name | genetics |
| mesh[23].descriptor_name | beta-Thalassemia |
| mesh[24].qualifier_ui | Q000175 |
| mesh[24].descriptor_ui | D017086 |
| mesh[24].is_major_topic | False |
| mesh[24].qualifier_name | diagnosis |
| mesh[24].descriptor_name | beta-Thalassemia |
| mesh[25].qualifier_ui | |
| mesh[25].descriptor_ui | D000081182 |
| mesh[25].is_major_topic | False |
| mesh[25].qualifier_name | |
| mesh[25].descriptor_name | Noninvasive Prenatal Testing |
| mesh[26].qualifier_ui | Q000235 |
| mesh[26].descriptor_ui | D055544 |
| mesh[26].is_major_topic | False |
| mesh[26].qualifier_name | genetics |
| mesh[26].descriptor_name | beta-Globins |
| mesh[27].qualifier_ui | |
| mesh[27].descriptor_ui | D005838 |
| mesh[27].is_major_topic | False |
| mesh[27].qualifier_name | |
| mesh[27].descriptor_name | Genotype |
| mesh[28].qualifier_ui | Q000235 |
| mesh[28].descriptor_ui | D006453 |
| mesh[28].is_major_topic | False |
| mesh[28].qualifier_name | genetics |
| mesh[28].descriptor_name | Hemoglobinopathies |
| mesh[29].qualifier_ui | Q000175 |
| mesh[29].descriptor_ui | D006453 |
| mesh[29].is_major_topic | False |
| mesh[29].qualifier_name | diagnosis |
| mesh[29].descriptor_name | Hemoglobinopathies |
| mesh[30].qualifier_ui | Q000235 |
| mesh[30].descriptor_ui | D000755 |
| mesh[30].is_major_topic | False |
| mesh[30].qualifier_name | genetics |
| mesh[30].descriptor_name | Anemia, Sickle Cell |
| mesh[31].qualifier_ui | Q000175 |
| mesh[31].descriptor_ui | D000755 |
| mesh[31].is_major_topic | False |
| mesh[31].qualifier_name | diagnosis |
| mesh[31].descriptor_name | Anemia, Sickle Cell |
| mesh[32].qualifier_ui | |
| mesh[32].descriptor_ui | D006801 |
| mesh[32].is_major_topic | False |
| mesh[32].qualifier_name | |
| mesh[32].descriptor_name | Humans |
| mesh[33].qualifier_ui | |
| mesh[33].descriptor_ui | D005260 |
| mesh[33].is_major_topic | False |
| mesh[33].qualifier_name | |
| mesh[33].descriptor_name | Female |
| mesh[34].qualifier_ui | |
| mesh[34].descriptor_ui | D011247 |
| mesh[34].is_major_topic | False |
| mesh[34].qualifier_name | |
| mesh[34].descriptor_name | Pregnancy |
| mesh[35].qualifier_ui | |
| mesh[35].descriptor_ui | D059014 |
| mesh[35].is_major_topic | True |
| mesh[35].qualifier_name | |
| mesh[35].descriptor_name | High-Throughput Nucleotide Sequencing |
| mesh[36].qualifier_ui | |
| mesh[36].descriptor_ui | D006239 |
| mesh[36].is_major_topic | True |
| mesh[36].qualifier_name | |
| mesh[36].descriptor_name | Haplotypes |
| mesh[37].qualifier_ui | |
| mesh[37].descriptor_ui | D020641 |
| mesh[37].is_major_topic | True |
| mesh[37].qualifier_name | |
| mesh[37].descriptor_name | Polymorphism, Single Nucleotide |
| mesh[38].qualifier_ui | Q000379 |
| mesh[38].descriptor_ui | D011296 |
| mesh[38].is_major_topic | False |
| mesh[38].qualifier_name | methods |
| mesh[38].descriptor_name | Prenatal Diagnosis |
| mesh[39].qualifier_ui | Q000235 |
| mesh[39].descriptor_ui | D017086 |
| mesh[39].is_major_topic | False |
| mesh[39].qualifier_name | genetics |
| mesh[39].descriptor_name | beta-Thalassemia |
| mesh[40].qualifier_ui | Q000175 |
| mesh[40].descriptor_ui | D017086 |
| mesh[40].is_major_topic | False |
| mesh[40].qualifier_name | diagnosis |
| mesh[40].descriptor_name | beta-Thalassemia |
| mesh[41].qualifier_ui | |
| mesh[41].descriptor_ui | D000081182 |
| mesh[41].is_major_topic | False |
| mesh[41].qualifier_name | |
| mesh[41].descriptor_name | Noninvasive Prenatal Testing |
| mesh[42].qualifier_ui | Q000235 |
| mesh[42].descriptor_ui | D055544 |
| mesh[42].is_major_topic | False |
| mesh[42].qualifier_name | genetics |
| mesh[42].descriptor_name | beta-Globins |
| mesh[43].qualifier_ui | |
| mesh[43].descriptor_ui | D005838 |
| mesh[43].is_major_topic | False |
| mesh[43].qualifier_name | |
| mesh[43].descriptor_name | Genotype |
| mesh[44].qualifier_ui | Q000235 |
| mesh[44].descriptor_ui | D006453 |
| mesh[44].is_major_topic | False |
| mesh[44].qualifier_name | genetics |
| mesh[44].descriptor_name | Hemoglobinopathies |
| mesh[45].qualifier_ui | Q000175 |
| mesh[45].descriptor_ui | D006453 |
| mesh[45].is_major_topic | False |
| mesh[45].qualifier_name | diagnosis |
| mesh[45].descriptor_name | Hemoglobinopathies |
| mesh[46].qualifier_ui | Q000235 |
| mesh[46].descriptor_ui | D000755 |
| mesh[46].is_major_topic | False |
| mesh[46].qualifier_name | genetics |
| mesh[46].descriptor_name | Anemia, Sickle Cell |
| mesh[47].qualifier_ui | Q000175 |
| mesh[47].descriptor_ui | D000755 |
| mesh[47].is_major_topic | False |
| mesh[47].qualifier_name | diagnosis |
| mesh[47].descriptor_name | Anemia, Sickle Cell |
| type | article |
| title | Non-invasive prenatal testing of beta-hemoglobinopathies using next generation sequencing, in-silico sequence size selection, and haplotyping |
| biblio.issue | 3 |
| biblio.volume | 65 |
| biblio.last_page | 189 |
| biblio.first_page | 180 |
| topics[0].id | https://openalex.org/T10978 |
| topics[0].field.id | https://openalex.org/fields/27 |
| topics[0].field.display_name | Medicine |
| topics[0].score | 0.9997000098228455 |
| topics[0].domain.id | https://openalex.org/domains/4 |
| topics[0].domain.display_name | Health Sciences |
| topics[0].subfield.id | https://openalex.org/subfields/2735 |
| topics[0].subfield.display_name | Pediatrics, Perinatology and Child Health |
| topics[0].display_name | Prenatal Screening and Diagnostics |
| topics[1].id | https://openalex.org/T10554 |
| topics[1].field.id | https://openalex.org/fields/27 |
| topics[1].field.display_name | Medicine |
| topics[1].score | 0.9979000091552734 |
| topics[1].domain.id | https://openalex.org/domains/4 |
| topics[1].domain.display_name | Health Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/2716 |
| topics[1].subfield.display_name | Genetics |
| topics[1].display_name | Hemoglobinopathies and Related Disorders |
| topics[2].id | https://openalex.org/T11660 |
| topics[2].field.id | https://openalex.org/fields/27 |
| topics[2].field.display_name | Medicine |
| topics[2].score | 0.9693999886512756 |
| topics[2].domain.id | https://openalex.org/domains/4 |
| topics[2].domain.display_name | Health Sciences |
| topics[2].subfield.id | https://openalex.org/subfields/2720 |
| topics[2].subfield.display_name | Hematology |
| topics[2].display_name | Blood groups and transfusion |
| is_xpac | False |
| apc_list | |
| apc_paid | |
| concepts[0].id | https://openalex.org/C2775905019 |
| concepts[0].level | 3 |
| concepts[0].score | 0.7839404940605164 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q192572 |
| concepts[0].display_name | In silico |
| concepts[1].id | https://openalex.org/C197754878 |
| concepts[1].level | 4 |
| concepts[1].score | 0.6147195100784302 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q80711 |
| concepts[1].display_name | Haplotype |
| concepts[2].id | https://openalex.org/C51679486 |
| concepts[2].level | 3 |
| concepts[2].score | 0.534883975982666 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q380546 |
| concepts[2].display_name | DNA sequencing |
| concepts[3].id | https://openalex.org/C70721500 |
| concepts[3].level | 1 |
| concepts[3].score | 0.534125804901123 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q177005 |
| concepts[3].display_name | Computational biology |
| concepts[4].id | https://openalex.org/C81917197 |
| concepts[4].level | 2 |
| concepts[4].score | 0.5339388251304626 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q628760 |
| concepts[4].display_name | Selection (genetic algorithm) |
| concepts[5].id | https://openalex.org/C2777940137 |
| concepts[5].level | 3 |
| concepts[5].score | 0.5015590190887451 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q3616632 |
| concepts[5].display_name | Beta thalassemia |
| concepts[6].id | https://openalex.org/C86803240 |
| concepts[6].level | 0 |
| concepts[6].score | 0.4767521321773529 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[6].display_name | Biology |
| concepts[7].id | https://openalex.org/C2778112365 |
| concepts[7].level | 2 |
| concepts[7].score | 0.44737282395362854 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q3511065 |
| concepts[7].display_name | Sequence (biology) |
| concepts[8].id | https://openalex.org/C54355233 |
| concepts[8].level | 1 |
| concepts[8].score | 0.43867412209510803 |
| concepts[8].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[8].display_name | Genetics |
| concepts[9].id | https://openalex.org/C60644358 |
| concepts[9].level | 1 |
| concepts[9].score | 0.35921356081962585 |
| concepts[9].wikidata | https://www.wikidata.org/wiki/Q128570 |
| concepts[9].display_name | Bioinformatics |
| concepts[10].id | https://openalex.org/C71924100 |
| concepts[10].level | 0 |
| concepts[10].score | 0.3216175138950348 |
| concepts[10].wikidata | https://www.wikidata.org/wiki/Q11190 |
| concepts[10].display_name | Medicine |
| concepts[11].id | https://openalex.org/C41008148 |
| concepts[11].level | 0 |
| concepts[11].score | 0.21945378184318542 |
| concepts[11].wikidata | https://www.wikidata.org/wiki/Q21198 |
| concepts[11].display_name | Computer science |
| concepts[12].id | https://openalex.org/C2777799968 |
| concepts[12].level | 2 |
| concepts[12].score | 0.20833557844161987 |
| concepts[12].wikidata | https://www.wikidata.org/wiki/Q185137 |
| concepts[12].display_name | Thalassemia |
| concepts[13].id | https://openalex.org/C104317684 |
| concepts[13].level | 2 |
| concepts[13].score | 0.1932053565979004 |
| concepts[13].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[13].display_name | Gene |
| concepts[14].id | https://openalex.org/C135763542 |
| concepts[14].level | 3 |
| concepts[14].score | 0.1748901903629303 |
| concepts[14].wikidata | https://www.wikidata.org/wiki/Q106016 |
| concepts[14].display_name | Genotype |
| concepts[15].id | https://openalex.org/C119857082 |
| concepts[15].level | 1 |
| concepts[15].score | 0.1513565182685852 |
| concepts[15].wikidata | https://www.wikidata.org/wiki/Q2539 |
| concepts[15].display_name | Machine learning |
| keywords[0].id | https://openalex.org/keywords/in-silico |
| keywords[0].score | 0.7839404940605164 |
| keywords[0].display_name | In silico |
| keywords[1].id | https://openalex.org/keywords/haplotype |
| keywords[1].score | 0.6147195100784302 |
| keywords[1].display_name | Haplotype |
| keywords[2].id | https://openalex.org/keywords/dna-sequencing |
| keywords[2].score | 0.534883975982666 |
| keywords[2].display_name | DNA sequencing |
| keywords[3].id | https://openalex.org/keywords/computational-biology |
| keywords[3].score | 0.534125804901123 |
| keywords[3].display_name | Computational biology |
| keywords[4].id | https://openalex.org/keywords/selection |
| keywords[4].score | 0.5339388251304626 |
| keywords[4].display_name | Selection (genetic algorithm) |
| keywords[5].id | https://openalex.org/keywords/beta-thalassemia |
| keywords[5].score | 0.5015590190887451 |
| keywords[5].display_name | Beta thalassemia |
| keywords[6].id | https://openalex.org/keywords/biology |
| keywords[6].score | 0.4767521321773529 |
| keywords[6].display_name | Biology |
| keywords[7].id | https://openalex.org/keywords/sequence |
| keywords[7].score | 0.44737282395362854 |
| keywords[7].display_name | Sequence (biology) |
| keywords[8].id | https://openalex.org/keywords/genetics |
| keywords[8].score | 0.43867412209510803 |
| keywords[8].display_name | Genetics |
| keywords[9].id | https://openalex.org/keywords/bioinformatics |
| keywords[9].score | 0.35921356081962585 |
| keywords[9].display_name | Bioinformatics |
| keywords[10].id | https://openalex.org/keywords/medicine |
| keywords[10].score | 0.3216175138950348 |
| keywords[10].display_name | Medicine |
| keywords[11].id | https://openalex.org/keywords/computer-science |
| keywords[11].score | 0.21945378184318542 |
| keywords[11].display_name | Computer science |
| keywords[12].id | https://openalex.org/keywords/thalassemia |
| keywords[12].score | 0.20833557844161987 |
| keywords[12].display_name | Thalassemia |
| keywords[13].id | https://openalex.org/keywords/gene |
| keywords[13].score | 0.1932053565979004 |
| keywords[13].display_name | Gene |
| keywords[14].id | https://openalex.org/keywords/genotype |
| keywords[14].score | 0.1748901903629303 |
| keywords[14].display_name | Genotype |
| keywords[15].id | https://openalex.org/keywords/machine-learning |
| keywords[15].score | 0.1513565182685852 |
| keywords[15].display_name | Machine learning |
| language | en |
| locations[0].id | doi:10.3325/cmj.2024.65.180 |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S176326776 |
| locations[0].source.issn | 0353-9504, 1332-8166 |
| locations[0].source.type | journal |
| locations[0].source.is_oa | True |
| locations[0].source.issn_l | 0353-9504 |
| locations[0].source.is_core | True |
| locations[0].source.is_in_doaj | True |
| locations[0].source.display_name | Croatian Medical Journal |
| locations[0].source.host_organization | https://openalex.org/P4310314772 |
| locations[0].source.host_organization_name | Medicinska naklada, Zagreb |
| locations[0].source.host_organization_lineage | https://openalex.org/P4310314772 |
| locations[0].source.host_organization_lineage_names | Medicinska naklada, Zagreb |
| locations[0].license | cc-by-nc-nd |
| locations[0].pdf_url | |
| locations[0].version | publishedVersion |
| locations[0].raw_type | journal-article |
| locations[0].license_id | https://openalex.org/licenses/cc-by-nc-nd |
| locations[0].is_accepted | True |
| locations[0].is_published | True |
| locations[0].raw_source_name | Croatian Medical Journal |
| locations[0].landing_page_url | http://doi.org/10.3325/cmj.2024.65.180 |
| locations[1].id | pmid:38868964 |
| 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 | Croatian medical journal |
| locations[1].landing_page_url | https://pubmed.ncbi.nlm.nih.gov/38868964 |
| locations[2].id | pmh:oai:escholarship.org:ark:/13030/qt8173f8kv |
| locations[2].is_oa | True |
| locations[2].source | |
| locations[2].license | cc-by |
| locations[2].pdf_url | |
| locations[2].version | submittedVersion |
| locations[2].raw_type | article |
| locations[2].license_id | https://openalex.org/licenses/cc-by |
| locations[2].is_accepted | False |
| locations[2].is_published | False |
| locations[2].raw_source_name | Croatian Medical Journal, vol 65, iss 3 |
| locations[2].landing_page_url | https://escholarship.org/uc/item/8173f8kv |
| locations[3].id | pmh:oai:pubmedcentral.nih.gov:11157249 |
| locations[3].is_oa | True |
| locations[3].source.id | https://openalex.org/S2764455111 |
| locations[3].source.issn | |
| locations[3].source.type | repository |
| locations[3].source.is_oa | False |
| locations[3].source.issn_l | |
| locations[3].source.is_core | False |
| locations[3].source.is_in_doaj | False |
| locations[3].source.display_name | PubMed Central |
| locations[3].source.host_organization | https://openalex.org/I1299303238 |
| locations[3].source.host_organization_name | National Institutes of Health |
| locations[3].source.host_organization_lineage | https://openalex.org/I1299303238 |
| locations[3].license | other-oa |
| locations[3].pdf_url | |
| locations[3].version | submittedVersion |
| locations[3].raw_type | Text |
| locations[3].license_id | https://openalex.org/licenses/other-oa |
| locations[3].is_accepted | False |
| locations[3].is_published | False |
| locations[3].raw_source_name | Croat Med J |
| locations[3].landing_page_url | https://www.ncbi.nlm.nih.gov/pmc/articles/11157249 |
| indexed_in | crossref, doaj, pubmed |
| authorships[0].author.id | https://openalex.org/A5108044601 |
| authorships[0].author.orcid | https://orcid.org/0000-0002-9383-5757 |
| authorships[0].author.display_name | M Kellis |
| authorships[0].countries | US |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I180670191 |
| authorships[0].affiliations[0].raw_affiliation_string | Department of Pediatrics, University of California, San Francisco, Oakland, CA, USA |
| authorships[0].affiliations[1].institution_ids | https://openalex.org/I4210135903 |
| authorships[0].affiliations[1].raw_affiliation_string | UCSF Benioff Children's Hospital Oakland Research Institute, Oakland, CA, USA |
| authorships[0].institutions[0].id | https://openalex.org/I4210135903 |
| authorships[0].institutions[0].ror | https://ror.org/03hwe2705 |
| authorships[0].institutions[0].type | healthcare |
| authorships[0].institutions[0].lineage | https://openalex.org/I4210135903 |
| authorships[0].institutions[0].country_code | US |
| authorships[0].institutions[0].display_name | UCSF Benioff Children's Hospital |
| authorships[0].institutions[1].id | https://openalex.org/I180670191 |
| authorships[0].institutions[1].ror | https://ror.org/043mz5j54 |
| authorships[0].institutions[1].type | education |
| authorships[0].institutions[1].lineage | https://openalex.org/I180670191 |
| authorships[0].institutions[1].country_code | US |
| authorships[0].institutions[1].display_name | University of California, San Francisco |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Henry A. Erlich |
| authorships[0].is_corresponding | True |
| authorships[0].raw_affiliation_strings | Department of Pediatrics, University of California, San Francisco, Oakland, CA, USA, UCSF Benioff Children's Hospital Oakland Research Institute, Oakland, CA, USA |
| authorships[1].author.id | https://openalex.org/A5114177048 |
| authorships[1].author.orcid | |
| authorships[1].author.display_name | L J Ko |
| authorships[1].countries | US |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I180670191 |
| authorships[1].affiliations[0].raw_affiliation_string | Department of Pediatrics, University of California, San Francisco, Oakland, CA, USA |
| authorships[1].institutions[0].id | https://openalex.org/I180670191 |
| authorships[1].institutions[0].ror | https://ror.org/043mz5j54 |
| authorships[1].institutions[0].type | education |
| authorships[1].institutions[0].lineage | https://openalex.org/I180670191 |
| authorships[1].institutions[0].country_code | US |
| authorships[1].institutions[0].display_name | University of California, San Francisco |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Lily Ko |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | Department of Pediatrics, University of California, San Francisco, Oakland, CA, USA |
| authorships[2].author.id | https://openalex.org/A5113251156 |
| authorships[2].author.orcid | |
| authorships[2].author.display_name | Jiyae Lee |
| authorships[2].countries | US |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I180670191 |
| authorships[2].affiliations[0].raw_affiliation_string | Department of Pediatrics, University of California, San Francisco, Oakland, CA, USA |
| authorships[2].institutions[0].id | https://openalex.org/I180670191 |
| authorships[2].institutions[0].ror | https://ror.org/043mz5j54 |
| authorships[2].institutions[0].type | education |
| authorships[2].institutions[0].lineage | https://openalex.org/I180670191 |
| authorships[2].institutions[0].country_code | US |
| authorships[2].institutions[0].display_name | University of California, San Francisco |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Jiyae Lee |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | Department of Pediatrics, University of California, San Francisco, Oakland, CA, USA |
| authorships[3].author.id | https://openalex.org/A5058806135 |
| authorships[3].author.orcid | |
| authorships[3].author.display_name | K. Eaton |
| authorships[3].countries | US |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I180670191 |
| authorships[3].affiliations[0].raw_affiliation_string | Department of Pediatrics, University of California, San Francisco, Oakland, CA, USA |
| authorships[3].institutions[0].id | https://openalex.org/I180670191 |
| authorships[3].institutions[0].ror | https://ror.org/043mz5j54 |
| authorships[3].institutions[0].type | education |
| authorships[3].institutions[0].lineage | https://openalex.org/I180670191 |
| authorships[3].institutions[0].country_code | US |
| authorships[3].institutions[0].display_name | University of California, San Francisco |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Katrina Eaton |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | Department of Pediatrics, University of California, San Francisco, Oakland, CA, USA |
| authorships[4].author.id | https://openalex.org/A5024280199 |
| authorships[4].author.orcid | https://orcid.org/0000-0001-7747-1335 |
| authorships[4].author.display_name | Cassandra Calloway |
| authorships[4].countries | US |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I4210135903 |
| authorships[4].affiliations[0].raw_affiliation_string | UCSF Benioff Children's Hospital Oakland Research Institute, Oakland, CA, USA |
| authorships[4].institutions[0].id | https://openalex.org/I4210135903 |
| authorships[4].institutions[0].ror | https://ror.org/03hwe2705 |
| authorships[4].institutions[0].type | healthcare |
| authorships[4].institutions[0].lineage | https://openalex.org/I4210135903 |
| authorships[4].institutions[0].country_code | US |
| authorships[4].institutions[0].display_name | UCSF Benioff Children's Hospital |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Cassandra D. Calloway |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | UCSF Benioff Children's Hospital Oakland Research Institute, Oakland, CA, USA |
| authorships[5].author.id | https://openalex.org/A5005668427 |
| authorships[5].author.orcid | https://orcid.org/0000-0003-0082-3536 |
| authorships[5].author.display_name | Ashutosh Lal |
| authorships[5].countries | US |
| authorships[5].affiliations[0].institution_ids | https://openalex.org/I180670191 |
| authorships[5].affiliations[0].raw_affiliation_string | Department of Pediatrics, University of California, San Francisco, Oakland, CA, USA |
| authorships[5].institutions[0].id | https://openalex.org/I180670191 |
| authorships[5].institutions[0].ror | https://ror.org/043mz5j54 |
| authorships[5].institutions[0].type | education |
| authorships[5].institutions[0].lineage | https://openalex.org/I180670191 |
| authorships[5].institutions[0].country_code | US |
| authorships[5].institutions[0].display_name | University of California, San Francisco |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Ashutosh Lal |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | Department of Pediatrics, University of California, San Francisco, Oakland, CA, USA |
| authorships[6].author.id | https://openalex.org/A5052575982 |
| authorships[6].author.orcid | https://orcid.org/0000-0002-8938-5423 |
| authorships[6].author.display_name | Reena Das |
| authorships[6].countries | IN |
| authorships[6].affiliations[0].institution_ids | https://openalex.org/I45294948 |
| authorships[6].affiliations[0].raw_affiliation_string | Post-Graduate Institute of Medical Education and Research, Chandigarh, India |
| authorships[6].institutions[0].id | https://openalex.org/I45294948 |
| authorships[6].institutions[0].ror | https://ror.org/009nfym65 |
| authorships[6].institutions[0].type | education |
| authorships[6].institutions[0].lineage | https://openalex.org/I45294948 |
| authorships[6].institutions[0].country_code | IN |
| authorships[6].institutions[0].display_name | Post Graduate Institute of Medical Education and Research |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Reena Das |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | Post-Graduate Institute of Medical Education and Research, Chandigarh, India |
| authorships[7].author.id | https://openalex.org/A5079821091 |
| authorships[7].author.orcid | https://orcid.org/0000-0002-6860-3698 |
| authorships[7].author.display_name | Manu Jamwal |
| authorships[7].countries | IN |
| authorships[7].affiliations[0].institution_ids | https://openalex.org/I45294948 |
| authorships[7].affiliations[0].raw_affiliation_string | Post-Graduate Institute of Medical Education and Research, Chandigarh, India |
| authorships[7].institutions[0].id | https://openalex.org/I45294948 |
| authorships[7].institutions[0].ror | https://ror.org/009nfym65 |
| authorships[7].institutions[0].type | education |
| authorships[7].institutions[0].lineage | https://openalex.org/I45294948 |
| authorships[7].institutions[0].country_code | IN |
| authorships[7].institutions[0].display_name | Post Graduate Institute of Medical Education and Research |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Manu Jamwal |
| authorships[7].is_corresponding | False |
| authorships[7].raw_affiliation_strings | Post-Graduate Institute of Medical Education and Research, Chandigarh, India |
| authorships[8].author.id | https://openalex.org/A5045107668 |
| authorships[8].author.orcid | |
| authorships[8].author.display_name | Christian López-Peña |
| authorships[8].countries | US |
| authorships[8].affiliations[0].institution_ids | https://openalex.org/I180670191 |
| authorships[8].affiliations[0].raw_affiliation_string | Department of Pediatrics, University of California, San Francisco, Oakland, CA, USA |
| authorships[8].institutions[0].id | https://openalex.org/I180670191 |
| authorships[8].institutions[0].ror | https://ror.org/043mz5j54 |
| authorships[8].institutions[0].type | education |
| authorships[8].institutions[0].lineage | https://openalex.org/I180670191 |
| authorships[8].institutions[0].country_code | US |
| authorships[8].institutions[0].display_name | University of California, San Francisco |
| authorships[8].author_position | middle |
| authorships[8].raw_author_name | Christian Lopez-Pena |
| authorships[8].is_corresponding | False |
| authorships[8].raw_affiliation_strings | Department of Pediatrics, University of California, San Francisco, Oakland, CA, USA |
| authorships[9].author.id | https://openalex.org/A5003582043 |
| authorships[9].author.orcid | https://orcid.org/0000-0001-9820-9547 |
| authorships[9].author.display_name | Steven J. Mack |
| authorships[9].countries | US |
| authorships[9].affiliations[0].institution_ids | https://openalex.org/I180670191 |
| authorships[9].affiliations[0].raw_affiliation_string | Department of Pediatrics, University of California, San Francisco, Oakland, CA, USA |
| authorships[9].institutions[0].id | https://openalex.org/I180670191 |
| authorships[9].institutions[0].ror | https://ror.org/043mz5j54 |
| authorships[9].institutions[0].type | education |
| authorships[9].institutions[0].lineage | https://openalex.org/I180670191 |
| authorships[9].institutions[0].country_code | US |
| authorships[9].institutions[0].display_name | University of California, San Francisco |
| authorships[9].author_position | last |
| authorships[9].raw_author_name | Steven J. Mack |
| authorships[9].is_corresponding | False |
| authorships[9].raw_affiliation_strings | Department of Pediatrics, University of California, San Francisco, Oakland, CA, USA |
| has_content.pdf | False |
| has_content.grobid_xml | False |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | http://doi.org/10.3325/cmj.2024.65.180 |
| open_access.oa_status | diamond |
| open_access.any_repository_has_fulltext | False |
| created_date | 2025-10-10T00:00:00 |
| display_name | Non-invasive prenatal testing of beta-hemoglobinopathies using next generation sequencing, in-silico sequence size selection, and haplotyping |
| has_fulltext | False |
| is_retracted | False |
| updated_date | 2025-11-06T03:46:38.306776 |
| primary_topic.id | https://openalex.org/T10978 |
| primary_topic.field.id | https://openalex.org/fields/27 |
| primary_topic.field.display_name | Medicine |
| primary_topic.score | 0.9997000098228455 |
| primary_topic.domain.id | https://openalex.org/domains/4 |
| primary_topic.domain.display_name | Health Sciences |
| primary_topic.subfield.id | https://openalex.org/subfields/2735 |
| primary_topic.subfield.display_name | Pediatrics, Perinatology and Child Health |
| primary_topic.display_name | Prenatal Screening and Diagnostics |
| related_works | https://openalex.org/W2912862995, https://openalex.org/W3129816939, https://openalex.org/W3146762847, https://openalex.org/W2985427592, https://openalex.org/W2101501829, https://openalex.org/W2398263405, https://openalex.org/W2400569965, https://openalex.org/W2060263731, https://openalex.org/W2003194288, https://openalex.org/W391093122 |
| cited_by_count | 0 |
| locations_count | 4 |
| best_oa_location.id | doi:10.3325/cmj.2024.65.180 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S176326776 |
| best_oa_location.source.issn | 0353-9504, 1332-8166 |
| best_oa_location.source.type | journal |
| best_oa_location.source.is_oa | True |
| best_oa_location.source.issn_l | 0353-9504 |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | True |
| best_oa_location.source.display_name | Croatian Medical Journal |
| best_oa_location.source.host_organization | https://openalex.org/P4310314772 |
| best_oa_location.source.host_organization_name | Medicinska naklada, Zagreb |
| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310314772 |
| best_oa_location.source.host_organization_lineage_names | Medicinska naklada, Zagreb |
| best_oa_location.license | cc-by-nc-nd |
| best_oa_location.pdf_url | |
| best_oa_location.version | publishedVersion |
| best_oa_location.raw_type | journal-article |
| best_oa_location.license_id | https://openalex.org/licenses/cc-by-nc-nd |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | True |
| best_oa_location.raw_source_name | Croatian Medical Journal |
| best_oa_location.landing_page_url | http://doi.org/10.3325/cmj.2024.65.180 |
| primary_location.id | doi:10.3325/cmj.2024.65.180 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S176326776 |
| primary_location.source.issn | 0353-9504, 1332-8166 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | True |
| primary_location.source.issn_l | 0353-9504 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | True |
| primary_location.source.display_name | Croatian Medical Journal |
| primary_location.source.host_organization | https://openalex.org/P4310314772 |
| primary_location.source.host_organization_name | Medicinska naklada, Zagreb |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310314772 |
| primary_location.source.host_organization_lineage_names | Medicinska naklada, Zagreb |
| primary_location.license | cc-by-nc-nd |
| primary_location.pdf_url | |
| primary_location.version | publishedVersion |
| primary_location.raw_type | journal-article |
| primary_location.license_id | https://openalex.org/licenses/cc-by-nc-nd |
| primary_location.is_accepted | True |
| primary_location.is_published | True |
| primary_location.raw_source_name | Croatian Medical Journal |
| primary_location.landing_page_url | http://doi.org/10.3325/cmj.2024.65.180 |
| publication_date | 2024-06-01 |
| publication_year | 2024 |
| referenced_works | https://openalex.org/W2151056739, https://openalex.org/W3024563204, https://openalex.org/W3214749820, https://openalex.org/W3134924918, https://openalex.org/W4220719780, https://openalex.org/W2043686152, https://openalex.org/W3112179900, https://openalex.org/W2100977485, https://openalex.org/W2142453541, https://openalex.org/W2998672854, https://openalex.org/W2794243132, https://openalex.org/W2152251782, https://openalex.org/W4394666350, https://openalex.org/W2771264796, https://openalex.org/W2129665615, https://openalex.org/W2162761556, https://openalex.org/W3008668452, https://openalex.org/W2142498970, https://openalex.org/W4321503383, https://openalex.org/W2399511800, https://openalex.org/W2146183954, https://openalex.org/W2116767791, https://openalex.org/W2041677964, https://openalex.org/W4251903243, https://openalex.org/W2024654143, https://openalex.org/W2140760260, https://openalex.org/W2088280931 |
| referenced_works_count | 27 |
| abstract_inverted_index.in | 15 |
| abstract_inverted_index.of | 3 |
| abstract_inverted_index.on | 21 |
| abstract_inverted_index.to | 10 |
| abstract_inverted_index.us | 9 |
| abstract_inverted_index.HBB | 6 |
| abstract_inverted_index.ISS | 4 |
| abstract_inverted_index.The | 0 |
| abstract_inverted_index.and | 5 |
| abstract_inverted_index.the | 18 |
| abstract_inverted_index.use | 2 |
| abstract_inverted_index.was | 26 |
| abstract_inverted_index.read | 23 |
| abstract_inverted_index.alone | 25 |
| abstract_inverted_index.based | 20 |
| abstract_inverted_index.cases | 16 |
| abstract_inverted_index.fetal | 13 |
| abstract_inverted_index.where | 17 |
| abstract_inverted_index.ratios | 24 |
| abstract_inverted_index.enabled | 8 |
| abstract_inverted_index.predict | 12 |
| abstract_inverted_index.variant | 22 |
| abstract_inverted_index.combined | 1 |
| abstract_inverted_index.correctly | 11 |
| abstract_inverted_index.genotypes | 14 |
| abstract_inverted_index.haplotypes | 7 |
| abstract_inverted_index.incorrect. | 27 |
| abstract_inverted_index.prediction | 19 |
| cited_by_percentile_year | |
| corresponding_author_ids | https://openalex.org/A5108044601 |
| countries_distinct_count | 2 |
| institutions_distinct_count | 10 |
| corresponding_institution_ids | https://openalex.org/I180670191, https://openalex.org/I4210135903 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/2 |
| sustainable_development_goals[0].score | 0.6499999761581421 |
| sustainable_development_goals[0].display_name | Zero hunger |
| citation_normalized_percentile.value | 0.13785783 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |