A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening Article Swipe
Marco L. Leung
,
Sallie McAdoo
,
Deborah Watson
,
Kallyn Stumm
,
Margaret Harr
,
Xiang Wang
,
Christine Hsiaoyun Chung
,
Fernanda Mafra
,
Addie I. Nesbitt
,
Hákon Hákonarson
,
Avni Santani
·
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.1016/j.jmoldx.2020.10.009
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.1016/j.jmoldx.2020.10.009
Related Topics
Concepts
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1016/j.jmoldx.2020.10.009
- http://www.jmdjournal.org/article/S1525157820305328/pdf
- OA Status
- bronze
- Cited By
- 2
- References
- 52
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3112052578
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W3112052578Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1016/j.jmoldx.2020.10.009Digital Object Identifier
- Title
-
A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier ScreeningWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2020Year of publication
- Publication date
-
2020-12-18Full publication date if available
- Authors
-
Marco L. Leung, Sallie McAdoo, Deborah Watson, Kallyn Stumm, Margaret Harr, Xiang Wang, Christine Hsiaoyun Chung, Fernanda Mafra, Addie I. Nesbitt, Hákon Hákonarson, Avni SantaniList of authors in order
- Landing page
-
https://doi.org/10.1016/j.jmoldx.2020.10.009Publisher landing page
- PDF URL
-
https://www.jmdjournal.org/article/S1525157820305328/pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
-
https://www.jmdjournal.org/article/S1525157820305328/pdfDirect OA link when available
- Concepts
-
Allele, Guideline, Residual risk, Residual, Relative risk, Disease, Medicine, Computer science, Statistics, Genetics, Gene, Biology, Mathematics, Internal medicine, Pathology, Algorithm, Confidence intervalTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
2Total citation count in OpenAlex
- Citations by year (recent)
-
2022: 1, 2021: 1Per-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/W3112052578 |
|---|---|
| doi | https://doi.org/10.1016/j.jmoldx.2020.10.009 |
| ids.doi | https://doi.org/10.1016/j.jmoldx.2020.10.009 |
| ids.mag | 3112052578 |
| ids.pmid | https://pubmed.ncbi.nlm.nih.gov/33349347 |
| ids.openalex | https://openalex.org/W3112052578 |
| fwci | 0.30918193 |
| mesh[0].qualifier_ui | Q000235 |
| mesh[0].descriptor_ui | D000581 |
| mesh[0].is_major_topic | False |
| mesh[0].qualifier_name | genetics |
| mesh[0].descriptor_name | Amidohydrolases |
| mesh[1].qualifier_ui | |
| mesh[1].descriptor_ui | D003241 |
| mesh[1].is_major_topic | False |
| mesh[1].qualifier_name | |
| mesh[1].descriptor_name | Consanguinity |
| mesh[2].qualifier_ui | Q000235 |
| mesh[2].descriptor_ui | D003550 |
| mesh[2].is_major_topic | False |
| mesh[2].qualifier_name | genetics |
| mesh[2].descriptor_name | Cystic Fibrosis |
| mesh[3].qualifier_ui | Q000517 |
| mesh[3].descriptor_ui | D003550 |
| mesh[3].is_major_topic | False |
| mesh[3].qualifier_name | prevention & control |
| mesh[3].descriptor_name | Cystic Fibrosis |
| mesh[4].qualifier_ui | Q000235 |
| mesh[4].descriptor_ui | D019005 |
| mesh[4].is_major_topic | False |
| mesh[4].qualifier_name | genetics |
| mesh[4].descriptor_name | Cystic Fibrosis Transmembrane Conductance Regulator |
| mesh[5].qualifier_ui | |
| mesh[5].descriptor_ui | D005190 |
| mesh[5].is_major_topic | False |
| mesh[5].qualifier_name | |
| mesh[5].descriptor_name | Family |
| mesh[6].qualifier_ui | |
| mesh[6].descriptor_ui | D005787 |
| mesh[6].is_major_topic | True |
| mesh[6].qualifier_name | |
| mesh[6].descriptor_name | Gene Frequency |
| mesh[7].qualifier_ui | Q000379 |
| mesh[7].descriptor_ui | D006580 |
| mesh[7].is_major_topic | False |
| mesh[7].qualifier_name | methods |
| mesh[7].descriptor_name | Genetic Carrier Screening |
| mesh[8].qualifier_ui | Q000379 |
| mesh[8].descriptor_ui | D005817 |
| mesh[8].is_major_topic | False |
| mesh[8].qualifier_name | methods |
| mesh[8].descriptor_name | Genetic Counseling |
| mesh[9].qualifier_ui | |
| mesh[9].descriptor_ui | D006801 |
| mesh[9].is_major_topic | False |
| mesh[9].qualifier_name | |
| mesh[9].descriptor_name | Humans |
| mesh[10].qualifier_ui | Q000379 |
| mesh[10].descriptor_ui | D008403 |
| mesh[10].is_major_topic | False |
| mesh[10].qualifier_name | methods |
| mesh[10].descriptor_name | Mass Screening |
| mesh[11].qualifier_ui | Q000235 |
| mesh[11].descriptor_ui | D064233 |
| mesh[11].is_major_topic | False |
| mesh[11].qualifier_name | genetics |
| mesh[11].descriptor_name | Sulfonylurea Receptors |
| mesh[12].qualifier_ui | Q000235 |
| mesh[12].descriptor_ui | D000520 |
| mesh[12].is_major_topic | False |
| mesh[12].qualifier_name | genetics |
| mesh[12].descriptor_name | alpha-Glucosidases |
| mesh[13].qualifier_ui | Q000235 |
| mesh[13].descriptor_ui | D000581 |
| mesh[13].is_major_topic | False |
| mesh[13].qualifier_name | genetics |
| mesh[13].descriptor_name | Amidohydrolases |
| mesh[14].qualifier_ui | |
| mesh[14].descriptor_ui | D003241 |
| mesh[14].is_major_topic | False |
| mesh[14].qualifier_name | |
| mesh[14].descriptor_name | Consanguinity |
| mesh[15].qualifier_ui | Q000235 |
| mesh[15].descriptor_ui | D003550 |
| mesh[15].is_major_topic | False |
| mesh[15].qualifier_name | genetics |
| mesh[15].descriptor_name | Cystic Fibrosis |
| mesh[16].qualifier_ui | Q000517 |
| mesh[16].descriptor_ui | D003550 |
| mesh[16].is_major_topic | False |
| mesh[16].qualifier_name | prevention & control |
| mesh[16].descriptor_name | Cystic Fibrosis |
| mesh[17].qualifier_ui | Q000235 |
| mesh[17].descriptor_ui | D019005 |
| mesh[17].is_major_topic | False |
| mesh[17].qualifier_name | genetics |
| mesh[17].descriptor_name | Cystic Fibrosis Transmembrane Conductance Regulator |
| mesh[18].qualifier_ui | |
| mesh[18].descriptor_ui | D005190 |
| mesh[18].is_major_topic | False |
| mesh[18].qualifier_name | |
| mesh[18].descriptor_name | Family |
| mesh[19].qualifier_ui | |
| mesh[19].descriptor_ui | D005787 |
| mesh[19].is_major_topic | True |
| mesh[19].qualifier_name | |
| mesh[19].descriptor_name | Gene Frequency |
| mesh[20].qualifier_ui | Q000379 |
| mesh[20].descriptor_ui | D006580 |
| mesh[20].is_major_topic | False |
| mesh[20].qualifier_name | methods |
| mesh[20].descriptor_name | Genetic Carrier Screening |
| mesh[21].qualifier_ui | Q000379 |
| mesh[21].descriptor_ui | D005817 |
| mesh[21].is_major_topic | False |
| mesh[21].qualifier_name | methods |
| mesh[21].descriptor_name | Genetic Counseling |
| 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 | Q000379 |
| mesh[23].descriptor_ui | D008403 |
| mesh[23].is_major_topic | False |
| mesh[23].qualifier_name | methods |
| mesh[23].descriptor_name | Mass Screening |
| mesh[24].qualifier_ui | Q000235 |
| mesh[24].descriptor_ui | D064233 |
| mesh[24].is_major_topic | False |
| mesh[24].qualifier_name | genetics |
| mesh[24].descriptor_name | Sulfonylurea Receptors |
| mesh[25].qualifier_ui | Q000235 |
| mesh[25].descriptor_ui | D000520 |
| mesh[25].is_major_topic | False |
| mesh[25].qualifier_name | genetics |
| mesh[25].descriptor_name | alpha-Glucosidases |
| type | article |
| title | A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening |
| biblio.issue | 1 |
| biblio.volume | 23 |
| biblio.last_page | 102 |
| biblio.first_page | 91 |
| topics[0].id | https://openalex.org/T10665 |
| topics[0].field.id | https://openalex.org/fields/27 |
| topics[0].field.display_name | Medicine |
| topics[0].score | 0.9998000264167786 |
| topics[0].domain.id | https://openalex.org/domains/4 |
| topics[0].domain.display_name | Health Sciences |
| topics[0].subfield.id | https://openalex.org/subfields/2740 |
| topics[0].subfield.display_name | Pulmonary and Respiratory Medicine |
| topics[0].display_name | Cystic Fibrosis Research Advances |
| topics[1].id | https://openalex.org/T11179 |
| topics[1].field.id | https://openalex.org/fields/11 |
| topics[1].field.display_name | Agricultural and Biological Sciences |
| topics[1].score | 0.9318000078201294 |
| topics[1].domain.id | https://openalex.org/domains/1 |
| topics[1].domain.display_name | Life Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/1110 |
| topics[1].subfield.display_name | Plant Science |
| topics[1].display_name | Nematode management and characterization studies |
| funders[0].id | https://openalex.org/F4320309040 |
| funders[0].ror | https://ror.org/00mj9k629 |
| funders[0].display_name | Children's Hospital Colorado Research Institute |
| is_xpac | False |
| apc_list.value | 3000 |
| apc_list.currency | USD |
| apc_list.value_usd | 3000 |
| apc_paid | |
| concepts[0].id | https://openalex.org/C180754005 |
| concepts[0].level | 3 |
| concepts[0].score | 0.6109028458595276 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q80726 |
| concepts[0].display_name | Allele |
| concepts[1].id | https://openalex.org/C2780182762 |
| concepts[1].level | 2 |
| concepts[1].score | 0.5723785161972046 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q1630279 |
| concepts[1].display_name | Guideline |
| concepts[2].id | https://openalex.org/C152163801 |
| concepts[2].level | 2 |
| concepts[2].score | 0.5394708514213562 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q2146057 |
| concepts[2].display_name | Residual risk |
| concepts[3].id | https://openalex.org/C155512373 |
| concepts[3].level | 2 |
| concepts[3].score | 0.4766208231449127 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q287450 |
| concepts[3].display_name | Residual |
| concepts[4].id | https://openalex.org/C82789193 |
| concepts[4].level | 3 |
| concepts[4].score | 0.4298586845397949 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q2142611 |
| concepts[4].display_name | Relative risk |
| concepts[5].id | https://openalex.org/C2779134260 |
| concepts[5].level | 2 |
| concepts[5].score | 0.4287460446357727 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q12136 |
| concepts[5].display_name | Disease |
| concepts[6].id | https://openalex.org/C71924100 |
| concepts[6].level | 0 |
| concepts[6].score | 0.39628058671951294 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q11190 |
| concepts[6].display_name | Medicine |
| concepts[7].id | https://openalex.org/C41008148 |
| concepts[7].level | 0 |
| concepts[7].score | 0.3745616674423218 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q21198 |
| concepts[7].display_name | Computer science |
| concepts[8].id | https://openalex.org/C105795698 |
| concepts[8].level | 1 |
| concepts[8].score | 0.34433987736701965 |
| concepts[8].wikidata | https://www.wikidata.org/wiki/Q12483 |
| concepts[8].display_name | Statistics |
| concepts[9].id | https://openalex.org/C54355233 |
| concepts[9].level | 1 |
| concepts[9].score | 0.34114253520965576 |
| concepts[9].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[9].display_name | Genetics |
| concepts[10].id | https://openalex.org/C104317684 |
| concepts[10].level | 2 |
| concepts[10].score | 0.30508238077163696 |
| concepts[10].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[10].display_name | Gene |
| concepts[11].id | https://openalex.org/C86803240 |
| concepts[11].level | 0 |
| concepts[11].score | 0.2927524447441101 |
| concepts[11].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[11].display_name | Biology |
| concepts[12].id | https://openalex.org/C33923547 |
| concepts[12].level | 0 |
| concepts[12].score | 0.23638296127319336 |
| concepts[12].wikidata | https://www.wikidata.org/wiki/Q395 |
| concepts[12].display_name | Mathematics |
| concepts[13].id | https://openalex.org/C126322002 |
| concepts[13].level | 1 |
| concepts[13].score | 0.22842615842819214 |
| concepts[13].wikidata | https://www.wikidata.org/wiki/Q11180 |
| concepts[13].display_name | Internal medicine |
| concepts[14].id | https://openalex.org/C142724271 |
| concepts[14].level | 1 |
| concepts[14].score | 0.17387494444847107 |
| concepts[14].wikidata | https://www.wikidata.org/wiki/Q7208 |
| concepts[14].display_name | Pathology |
| concepts[15].id | https://openalex.org/C11413529 |
| concepts[15].level | 1 |
| concepts[15].score | 0.164434015750885 |
| concepts[15].wikidata | https://www.wikidata.org/wiki/Q8366 |
| concepts[15].display_name | Algorithm |
| concepts[16].id | https://openalex.org/C44249647 |
| concepts[16].level | 2 |
| concepts[16].score | 0.132063627243042 |
| concepts[16].wikidata | https://www.wikidata.org/wiki/Q208498 |
| concepts[16].display_name | Confidence interval |
| keywords[0].id | https://openalex.org/keywords/allele |
| keywords[0].score | 0.6109028458595276 |
| keywords[0].display_name | Allele |
| keywords[1].id | https://openalex.org/keywords/guideline |
| keywords[1].score | 0.5723785161972046 |
| keywords[1].display_name | Guideline |
| keywords[2].id | https://openalex.org/keywords/residual-risk |
| keywords[2].score | 0.5394708514213562 |
| keywords[2].display_name | Residual risk |
| keywords[3].id | https://openalex.org/keywords/residual |
| keywords[3].score | 0.4766208231449127 |
| keywords[3].display_name | Residual |
| keywords[4].id | https://openalex.org/keywords/relative-risk |
| keywords[4].score | 0.4298586845397949 |
| keywords[4].display_name | Relative risk |
| keywords[5].id | https://openalex.org/keywords/disease |
| keywords[5].score | 0.4287460446357727 |
| keywords[5].display_name | Disease |
| keywords[6].id | https://openalex.org/keywords/medicine |
| keywords[6].score | 0.39628058671951294 |
| keywords[6].display_name | Medicine |
| keywords[7].id | https://openalex.org/keywords/computer-science |
| keywords[7].score | 0.3745616674423218 |
| keywords[7].display_name | Computer science |
| keywords[8].id | https://openalex.org/keywords/statistics |
| keywords[8].score | 0.34433987736701965 |
| keywords[8].display_name | Statistics |
| keywords[9].id | https://openalex.org/keywords/genetics |
| keywords[9].score | 0.34114253520965576 |
| keywords[9].display_name | Genetics |
| keywords[10].id | https://openalex.org/keywords/gene |
| keywords[10].score | 0.30508238077163696 |
| keywords[10].display_name | Gene |
| keywords[11].id | https://openalex.org/keywords/biology |
| keywords[11].score | 0.2927524447441101 |
| keywords[11].display_name | Biology |
| keywords[12].id | https://openalex.org/keywords/mathematics |
| keywords[12].score | 0.23638296127319336 |
| keywords[12].display_name | Mathematics |
| keywords[13].id | https://openalex.org/keywords/internal-medicine |
| keywords[13].score | 0.22842615842819214 |
| keywords[13].display_name | Internal medicine |
| keywords[14].id | https://openalex.org/keywords/pathology |
| keywords[14].score | 0.17387494444847107 |
| keywords[14].display_name | Pathology |
| keywords[15].id | https://openalex.org/keywords/algorithm |
| keywords[15].score | 0.164434015750885 |
| keywords[15].display_name | Algorithm |
| keywords[16].id | https://openalex.org/keywords/confidence-interval |
| keywords[16].score | 0.132063627243042 |
| keywords[16].display_name | Confidence interval |
| language | en |
| locations[0].id | doi:10.1016/j.jmoldx.2020.10.009 |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S48180145 |
| locations[0].source.issn | 1525-1578, 1943-7811 |
| locations[0].source.type | journal |
| locations[0].source.is_oa | False |
| locations[0].source.issn_l | 1525-1578 |
| locations[0].source.is_core | True |
| locations[0].source.is_in_doaj | False |
| locations[0].source.display_name | Journal of Molecular Diagnostics |
| locations[0].source.host_organization | https://openalex.org/P4310320990 |
| locations[0].source.host_organization_name | Elsevier BV |
| locations[0].source.host_organization_lineage | https://openalex.org/P4310320990 |
| locations[0].source.host_organization_lineage_names | Elsevier BV |
| locations[0].license | |
| locations[0].pdf_url | http://www.jmdjournal.org/article/S1525157820305328/pdf |
| locations[0].version | publishedVersion |
| locations[0].raw_type | journal-article |
| locations[0].license_id | |
| locations[0].is_accepted | True |
| locations[0].is_published | True |
| locations[0].raw_source_name | The Journal of Molecular Diagnostics |
| locations[0].landing_page_url | https://doi.org/10.1016/j.jmoldx.2020.10.009 |
| locations[1].id | pmid:33349347 |
| 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 | The Journal of molecular diagnostics : JMD |
| locations[1].landing_page_url | https://pubmed.ncbi.nlm.nih.gov/33349347 |
| indexed_in | crossref, pubmed |
| authorships[0].author.id | https://openalex.org/A5055671762 |
| authorships[0].author.orcid | https://orcid.org/0000-0003-3312-8468 |
| authorships[0].author.display_name | Marco L. Leung |
| authorships[0].countries | US |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I52357470 |
| authorships[0].affiliations[0].raw_affiliation_string | Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio |
| authorships[0].affiliations[1].institution_ids | https://openalex.org/I52357470 |
| authorships[0].affiliations[1].raw_affiliation_string | Department of Pathology, The Ohio State University College of Medicine, Columbus, Ohio |
| authorships[0].affiliations[2].institution_ids | https://openalex.org/I1314135232 |
| authorships[0].affiliations[2].raw_affiliation_string | The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio |
| authorships[0].affiliations[3].institution_ids | https://openalex.org/I1335321130 |
| authorships[0].affiliations[3].raw_affiliation_string | Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[0].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[0].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[0].institutions[0].type | healthcare |
| authorships[0].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[0].institutions[0].country_code | US |
| authorships[0].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[0].institutions[1].id | https://openalex.org/I1314135232 |
| authorships[0].institutions[1].ror | https://ror.org/003rfsp33 |
| authorships[0].institutions[1].type | healthcare |
| authorships[0].institutions[1].lineage | https://openalex.org/I1314135232 |
| authorships[0].institutions[1].country_code | US |
| authorships[0].institutions[1].display_name | Nationwide Children's Hospital |
| authorships[0].institutions[2].id | https://openalex.org/I52357470 |
| authorships[0].institutions[2].ror | https://ror.org/00rs6vg23 |
| authorships[0].institutions[2].type | education |
| authorships[0].institutions[2].lineage | https://openalex.org/I52357470 |
| authorships[0].institutions[2].country_code | US |
| authorships[0].institutions[2].display_name | The Ohio State University |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Marco L. Leung |
| authorships[0].is_corresponding | True |
| authorships[0].raw_affiliation_strings | Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, Department of Pathology, The Ohio State University College of Medicine, Columbus, Ohio, Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio |
| authorships[1].author.id | https://openalex.org/A5025022236 |
| authorships[1].author.orcid | https://orcid.org/0000-0003-1964-6795 |
| authorships[1].author.display_name | Sallie McAdoo |
| authorships[1].countries | US |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I4210159317 |
| authorships[1].affiliations[0].raw_affiliation_string | Kidney Cancer Association, Houston, Texas |
| authorships[1].institutions[0].id | https://openalex.org/I4210159317 |
| authorships[1].institutions[0].ror | https://ror.org/05ffr8x96 |
| authorships[1].institutions[0].type | nonprofit |
| authorships[1].institutions[0].lineage | https://openalex.org/I4210159317 |
| authorships[1].institutions[0].country_code | US |
| authorships[1].institutions[0].display_name | Kidney Cancer Association |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Sallie McAdoo |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | Kidney Cancer Association, Houston, Texas |
| authorships[2].author.id | https://openalex.org/A5077816873 |
| authorships[2].author.orcid | https://orcid.org/0000-0002-8044-8344 |
| authorships[2].author.display_name | Deborah Watson |
| authorships[2].countries | US |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[2].affiliations[0].raw_affiliation_string | Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[2].affiliations[1].institution_ids | https://openalex.org/I79576946 |
| authorships[2].affiliations[1].raw_affiliation_string | Departments of Pediatrics, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania |
| authorships[2].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[2].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[2].institutions[0].type | healthcare |
| authorships[2].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[2].institutions[0].country_code | US |
| authorships[2].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[2].institutions[1].id | https://openalex.org/I79576946 |
| authorships[2].institutions[1].ror | https://ror.org/00b30xv10 |
| authorships[2].institutions[1].type | education |
| authorships[2].institutions[1].lineage | https://openalex.org/I79576946 |
| authorships[2].institutions[1].country_code | US |
| authorships[2].institutions[1].display_name | University of Pennsylvania |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Deborah Watson |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, Departments of Pediatrics, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania |
| authorships[3].author.id | https://openalex.org/A5036764870 |
| authorships[3].author.orcid | |
| authorships[3].author.display_name | Kallyn Stumm |
| authorships[3].countries | US |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[3].affiliations[0].raw_affiliation_string | Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[3].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[3].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[3].institutions[0].type | healthcare |
| authorships[3].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[3].institutions[0].country_code | US |
| authorships[3].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Kallyn Stumm |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[4].author.id | https://openalex.org/A5045150719 |
| authorships[4].author.orcid | https://orcid.org/0000-0002-1213-006X |
| authorships[4].author.display_name | Margaret Harr |
| authorships[4].countries | US |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[4].affiliations[0].raw_affiliation_string | Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[4].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[4].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[4].institutions[0].type | healthcare |
| authorships[4].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[4].institutions[0].country_code | US |
| authorships[4].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Margaret Harr |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[5].author.id | https://openalex.org/A5100388998 |
| authorships[5].author.orcid | https://orcid.org/0000-0001-9717-4936 |
| authorships[5].author.display_name | Xiang Wang |
| authorships[5].countries | US |
| authorships[5].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[5].affiliations[0].raw_affiliation_string | Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[5].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[5].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[5].institutions[0].type | healthcare |
| authorships[5].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[5].institutions[0].country_code | US |
| authorships[5].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Xiang Wang |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[6].author.id | https://openalex.org/A5011717896 |
| authorships[6].author.orcid | |
| authorships[6].author.display_name | Christine Hsiaoyun Chung |
| authorships[6].countries | US |
| authorships[6].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[6].affiliations[0].raw_affiliation_string | Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[6].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[6].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[6].institutions[0].type | healthcare |
| authorships[6].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[6].institutions[0].country_code | US |
| authorships[6].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Christine H. Chung |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[7].author.id | https://openalex.org/A5006865939 |
| authorships[7].author.orcid | https://orcid.org/0000-0002-3962-2873 |
| authorships[7].author.display_name | Fernanda Mafra |
| authorships[7].countries | US |
| authorships[7].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[7].affiliations[0].raw_affiliation_string | Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[7].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[7].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[7].institutions[0].type | healthcare |
| authorships[7].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[7].institutions[0].country_code | US |
| authorships[7].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Fernanda Mafra |
| authorships[7].is_corresponding | False |
| authorships[7].raw_affiliation_strings | Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[8].author.id | https://openalex.org/A5007583712 |
| authorships[8].author.orcid | https://orcid.org/0000-0001-5778-1176 |
| authorships[8].author.display_name | Addie I. Nesbitt |
| authorships[8].countries | US |
| authorships[8].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[8].affiliations[0].raw_affiliation_string | Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[8].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[8].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[8].institutions[0].type | healthcare |
| authorships[8].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[8].institutions[0].country_code | US |
| authorships[8].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[8].author_position | middle |
| authorships[8].raw_author_name | Addie I. Nesbitt |
| authorships[8].is_corresponding | False |
| authorships[8].raw_affiliation_strings | Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[9].author.id | https://openalex.org/A5088244425 |
| authorships[9].author.orcid | https://orcid.org/0000-0003-2814-7461 |
| authorships[9].author.display_name | Hákon Hákonarson |
| authorships[9].countries | US |
| authorships[9].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[9].affiliations[0].raw_affiliation_string | Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[9].affiliations[1].institution_ids | https://openalex.org/I79576946 |
| authorships[9].affiliations[1].raw_affiliation_string | Departments of Pediatrics, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania |
| authorships[9].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[9].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[9].institutions[0].type | healthcare |
| authorships[9].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[9].institutions[0].country_code | US |
| authorships[9].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[9].institutions[1].id | https://openalex.org/I79576946 |
| authorships[9].institutions[1].ror | https://ror.org/00b30xv10 |
| authorships[9].institutions[1].type | education |
| authorships[9].institutions[1].lineage | https://openalex.org/I79576946 |
| authorships[9].institutions[1].country_code | US |
| authorships[9].institutions[1].display_name | University of Pennsylvania |
| authorships[9].author_position | middle |
| authorships[9].raw_author_name | Hakon Hakonarson |
| authorships[9].is_corresponding | False |
| authorships[9].raw_affiliation_strings | Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, Departments of Pediatrics, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania |
| authorships[10].author.id | https://openalex.org/A5033907618 |
| authorships[10].author.orcid | https://orcid.org/0000-0003-2871-4307 |
| authorships[10].author.display_name | Avni Santani |
| authorships[10].countries | US |
| authorships[10].affiliations[0].institution_ids | https://openalex.org/I79576946 |
| authorships[10].affiliations[0].raw_affiliation_string | Department of Pathology and Laboratory Medicine, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania |
| authorships[10].affiliations[1].institution_ids | https://openalex.org/I1335321130 |
| authorships[10].affiliations[1].raw_affiliation_string | Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[10].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[10].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[10].institutions[0].type | healthcare |
| authorships[10].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[10].institutions[0].country_code | US |
| authorships[10].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[10].institutions[1].id | https://openalex.org/I79576946 |
| authorships[10].institutions[1].ror | https://ror.org/00b30xv10 |
| authorships[10].institutions[1].type | education |
| authorships[10].institutions[1].lineage | https://openalex.org/I79576946 |
| authorships[10].institutions[1].country_code | US |
| authorships[10].institutions[1].display_name | University of Pennsylvania |
| authorships[10].author_position | last |
| authorships[10].raw_author_name | Avni Santani |
| authorships[10].is_corresponding | True |
| authorships[10].raw_affiliation_strings | Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, Department of Pathology and Laboratory Medicine, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania |
| has_content.pdf | True |
| has_content.grobid_xml | True |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | http://www.jmdjournal.org/article/S1525157820305328/pdf |
| open_access.oa_status | bronze |
| open_access.any_repository_has_fulltext | False |
| created_date | 2025-10-10T00:00:00 |
| display_name | A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening |
| has_fulltext | True |
| is_retracted | False |
| updated_date | 2025-11-06T03:46:38.306776 |
| primary_topic.id | https://openalex.org/T10665 |
| primary_topic.field.id | https://openalex.org/fields/27 |
| primary_topic.field.display_name | Medicine |
| primary_topic.score | 0.9998000264167786 |
| primary_topic.domain.id | https://openalex.org/domains/4 |
| primary_topic.domain.display_name | Health Sciences |
| primary_topic.subfield.id | https://openalex.org/subfields/2740 |
| primary_topic.subfield.display_name | Pulmonary and Respiratory Medicine |
| primary_topic.display_name | Cystic Fibrosis Research Advances |
| related_works | https://openalex.org/W2339422290, https://openalex.org/W2397653702, https://openalex.org/W4233871529, https://openalex.org/W2338818750, https://openalex.org/W2365451219, https://openalex.org/W2415869793, https://openalex.org/W4211072166, https://openalex.org/W28723353, https://openalex.org/W4231104876, https://openalex.org/W4319978406 |
| cited_by_count | 2 |
| counts_by_year[0].year | 2022 |
| counts_by_year[0].cited_by_count | 1 |
| counts_by_year[1].year | 2021 |
| counts_by_year[1].cited_by_count | 1 |
| locations_count | 2 |
| best_oa_location.id | doi:10.1016/j.jmoldx.2020.10.009 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S48180145 |
| best_oa_location.source.issn | 1525-1578, 1943-7811 |
| best_oa_location.source.type | journal |
| best_oa_location.source.is_oa | False |
| best_oa_location.source.issn_l | 1525-1578 |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | False |
| best_oa_location.source.display_name | Journal of Molecular Diagnostics |
| best_oa_location.source.host_organization | https://openalex.org/P4310320990 |
| best_oa_location.source.host_organization_name | Elsevier BV |
| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310320990 |
| best_oa_location.source.host_organization_lineage_names | Elsevier BV |
| best_oa_location.license | |
| best_oa_location.pdf_url | http://www.jmdjournal.org/article/S1525157820305328/pdf |
| best_oa_location.version | publishedVersion |
| best_oa_location.raw_type | journal-article |
| best_oa_location.license_id | |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | True |
| best_oa_location.raw_source_name | The Journal of Molecular Diagnostics |
| best_oa_location.landing_page_url | https://doi.org/10.1016/j.jmoldx.2020.10.009 |
| primary_location.id | doi:10.1016/j.jmoldx.2020.10.009 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S48180145 |
| primary_location.source.issn | 1525-1578, 1943-7811 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | False |
| primary_location.source.issn_l | 1525-1578 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | False |
| primary_location.source.display_name | Journal of Molecular Diagnostics |
| primary_location.source.host_organization | https://openalex.org/P4310320990 |
| primary_location.source.host_organization_name | Elsevier BV |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310320990 |
| primary_location.source.host_organization_lineage_names | Elsevier BV |
| primary_location.license | |
| primary_location.pdf_url | http://www.jmdjournal.org/article/S1525157820305328/pdf |
| primary_location.version | publishedVersion |
| primary_location.raw_type | journal-article |
| primary_location.license_id | |
| primary_location.is_accepted | True |
| primary_location.is_published | True |
| primary_location.raw_source_name | The Journal of Molecular Diagnostics |
| primary_location.landing_page_url | https://doi.org/10.1016/j.jmoldx.2020.10.009 |
| publication_date | 2020-12-18 |
| publication_year | 2020 |
| referenced_works | https://openalex.org/W4233819793, https://openalex.org/W1990785482, https://openalex.org/W2052461624, https://openalex.org/W2015160508, https://openalex.org/W2302294685, https://openalex.org/W2889812992, https://openalex.org/W2949093416, https://openalex.org/W2943296634, https://openalex.org/W2951507924, https://openalex.org/W4235160721, https://openalex.org/W2514196893, https://openalex.org/W2082563790, https://openalex.org/W2168187284, https://openalex.org/W2068779190, https://openalex.org/W1977796924, https://openalex.org/W2034293124, https://openalex.org/W7073674461, https://openalex.org/W78266864, https://openalex.org/W2081346143, https://openalex.org/W2047259738, https://openalex.org/W2032312979, https://openalex.org/W1983658092, https://openalex.org/W1990538447, https://openalex.org/W1976050446, https://openalex.org/W2980537572, https://openalex.org/W2052237406, https://openalex.org/W2168689164, https://openalex.org/W2063973827, https://openalex.org/W2037219647, https://openalex.org/W2785449648, https://openalex.org/W2039671670, https://openalex.org/W6604851679, https://openalex.org/W6632137156, https://openalex.org/W2076534479, https://openalex.org/W2205714705, https://openalex.org/W2067198210, https://openalex.org/W6608897685, https://openalex.org/W6664999306, https://openalex.org/W2049091156, https://openalex.org/W6638929897, https://openalex.org/W2890894432, https://openalex.org/W2262795293, https://openalex.org/W6720572527, https://openalex.org/W119119808, https://openalex.org/W224285268, https://openalex.org/W2474766509, https://openalex.org/W4210949803, https://openalex.org/W1908018333, https://openalex.org/W1537989147, https://openalex.org/W2058371396, https://openalex.org/W1854319952, https://openalex.org/W2254941592 |
| referenced_works_count | 52 |
| abstract_inverted_index | |
| cited_by_percentile_year.max | 94 |
| cited_by_percentile_year.min | 89 |
| corresponding_author_ids | https://openalex.org/A5033907618, https://openalex.org/A5055671762 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 11 |
| corresponding_institution_ids | https://openalex.org/I1314135232, https://openalex.org/I1335321130, https://openalex.org/I52357470, https://openalex.org/I79576946 |
| citation_normalized_percentile.value | 0.63399895 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |