{"id":"https://openalex.org/W2736973050","doi":"https://doi.org/10.1038/gim.2017.76","title":"Genomic diagnostics within a medically underserved population: efficacy and implications","display_name":"Genomic diagnostics within a medically underserved population: efficacy and implications","publication_year":2017,"publication_date":"2017-07-20","ids":{"openalex":"https://openalex.org/W2736973050","doi":"https://doi.org/10.1038/gim.2017.76","mag":"2736973050","pmid":"https://pubmed.ncbi.nlm.nih.gov/28726809"},"language":"en","primary_location":{"id":"doi:10.1038/gim.2017.76","doi":"https://doi.org/10.1038/gim.2017.76","is_oa":true,"landing_page_url":"https://doi.org/10.1038/gim.2017.76","pdf_url":"https://www.nature.com/articles/gim201776.pdf","source":{"id":"https://openalex.org/S187186932","display_name":"Genetics in Medicine","issn_l":"1098-3600","issn":["1098-3600","1530-0366"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics in Medicine","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://www.nature.com/articles/gim201776.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5022288358","display_name":"Kevin A. Strauss","orcid":"https://orcid.org/0000-0002-6429-8657","observed_orcids":["https://orcid.org/0000-0002-6429-8657"]},"institutions":[{"id":"https://openalex.org/I1305995100","display_name":"Clinic for Special Children","ror":"https://ror.org/04k1xjf56","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1305995100"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Kevin A. Strauss","raw_affiliation_strings":["Clinic for Special Children, Strasburg, Pennsylvania, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinic for Special Children, Strasburg, Pennsylvania, USA","institution_ids":["https://openalex.org/I1305995100"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079825013","display_name":"Claudia G. Gonzaga-Jauregui","orcid":"https://orcid.org/0000-0002-4667-3679","observed_orcids":["https://orcid.org/0000-0002-4667-3679"]},"institutions":[{"id":"https://openalex.org/I186523950","display_name":"Regeneron (United States)","ror":"https://ror.org/02f51rf24","country_code":"US","type":"company","lineage":["https://openalex.org/I186523950"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Claudia Gonzaga-Jauregui","raw_affiliation_strings":["Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, New York, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, New York, USA","institution_ids":["https://openalex.org/I186523950"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014493507","display_name":"Karlla Welch Brigatti","orcid":"https://orcid.org/0000-0002-9178-815X","observed_orcids":["https://orcid.org/0000-0002-9178-815X"]},"institutions":[{"id":"https://openalex.org/I1305995100","display_name":"Clinic for Special Children","ror":"https://ror.org/04k1xjf56","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1305995100"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Karlla W. Brigatti","raw_affiliation_strings":["Clinic for Special Children, Strasburg, Pennsylvania, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinic for Special Children, Strasburg, Pennsylvania, USA","institution_ids":["https://openalex.org/I1305995100"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012689519","display_name":"Katie B. Williams","orcid":"https://orcid.org/0000-0002-2356-7646","observed_orcids":["https://orcid.org/0000-0002-2356-7646"]},"institutions":[{"id":"https://openalex.org/I1305995100","display_name":"Clinic for Special Children","ror":"https://ror.org/04k1xjf56","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1305995100"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Katie B. Williams","raw_affiliation_strings":["Clinic for Special Children, Strasburg, Pennsylvania, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinic for Special Children, Strasburg, Pennsylvania, USA","institution_ids":["https://openalex.org/I1305995100"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110917391","display_name":"Alejandra Klauer King","orcid":"https://orcid.org/0000-0003-0396-9872","observed_orcids":["https://orcid.org/0000-0003-0396-9872"]},"institutions":[{"id":"https://openalex.org/I186523950","display_name":"Regeneron (United States)","ror":"https://ror.org/02f51rf24","country_code":"US","type":"company","lineage":["https://openalex.org/I186523950"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alejandra K. King","raw_affiliation_strings":["Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, New York, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, New York, USA","institution_ids":["https://openalex.org/I186523950"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020107496","display_name":"Cristopher V. Van Hout","orcid":"https://orcid.org/0000-0001-9689-5344","observed_orcids":["https://orcid.org/0000-0001-9689-5344"]},"institutions":[{"id":"https://openalex.org/I186523950","display_name":"Regeneron (United States)","ror":"https://ror.org/02f51rf24","country_code":"US","type":"company","lineage":["https://openalex.org/I186523950"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Cristopher Van Hout","raw_affiliation_strings":["Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, New York, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, New York, USA","institution_ids":["https://openalex.org/I186523950"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Donna L. Robinson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1305995100","display_name":"Clinic for Special Children","ror":"https://ror.org/04k1xjf56","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1305995100"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Donna L. Robinson","raw_affiliation_strings":["Clinic for Special Children, Strasburg, Pennsylvania, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinic for Special Children, Strasburg, Pennsylvania, USA","institution_ids":["https://openalex.org/I1305995100"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014802955","display_name":"Millie Young","orcid":"https://orcid.org/0000-0001-6014-5189","observed_orcids":["https://orcid.org/0000-0001-6014-5189"]},"institutions":[{"id":"https://openalex.org/I1305995100","display_name":"Clinic for Special Children","ror":"https://ror.org/04k1xjf56","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1305995100"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Millie Young","raw_affiliation_strings":["Clinic for Special Children, Strasburg, Pennsylvania, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinic for Special Children, Strasburg, Pennsylvania, USA","institution_ids":["https://openalex.org/I1305995100"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110282900","display_name":"Kavita Praveen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I186523950","display_name":"Regeneron (United States)","ror":"https://ror.org/02f51rf24","country_code":"US","type":"company","lineage":["https://openalex.org/I186523950"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kavita Praveen","raw_affiliation_strings":["Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, New York, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, New York, USA","institution_ids":["https://openalex.org/I186523950"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008484185","display_name":"Adam D. Heaps","orcid":"https://orcid.org/0000-0002-4708-6521","observed_orcids":["https://orcid.org/0000-0002-4708-6521"]},"institutions":[{"id":"https://openalex.org/I1305995100","display_name":"Clinic for Special Children","ror":"https://ror.org/04k1xjf56","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1305995100"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Adam D. Heaps","raw_affiliation_strings":["Clinic for Special Children, Strasburg, Pennsylvania, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinic for Special Children, Strasburg, Pennsylvania, USA","institution_ids":["https://openalex.org/I1305995100"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048010842","display_name":"Mindy Kuebler","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1305995100","display_name":"Clinic for Special Children","ror":"https://ror.org/04k1xjf56","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1305995100"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mindy Kuebler","raw_affiliation_strings":["Clinic for Special Children, Strasburg, Pennsylvania, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinic for Special Children, Strasburg, Pennsylvania, USA","institution_ids":["https://openalex.org/I1305995100"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032100711","display_name":"Aris Baras","orcid":"https://orcid.org/0000-0002-6830-3396","observed_orcids":["https://orcid.org/0000-0002-6830-3396"]},"institutions":[{"id":"https://openalex.org/I186523950","display_name":"Regeneron (United States)","ror":"https://ror.org/02f51rf24","country_code":"US","type":"company","lineage":["https://openalex.org/I186523950"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Aris Baras","raw_affiliation_strings":["Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, New York, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, New York, USA","institution_ids":["https://openalex.org/I186523950"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057175194","display_name":"Jeffrey G. Reid","orcid":"https://orcid.org/0000-0001-8645-4713","observed_orcids":["https://orcid.org/0000-0001-8645-4713"]},"institutions":[{"id":"https://openalex.org/I186523950","display_name":"Regeneron (United States)","ror":"https://ror.org/02f51rf24","country_code":"US","type":"company","lineage":["https://openalex.org/I186523950"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jeffrey G. Reid","raw_affiliation_strings":["Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, New York, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, New York, USA","institution_ids":["https://openalex.org/I186523950"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025311418","display_name":"John D. Overton","orcid":"https://orcid.org/0000-0001-7650-8634","observed_orcids":["https://orcid.org/0000-0001-7650-8634"]},"institutions":[{"id":"https://openalex.org/I186523950","display_name":"Regeneron (United States)","ror":"https://ror.org/02f51rf24","country_code":"US","type":"company","lineage":["https://openalex.org/I186523950"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John D. Overton","raw_affiliation_strings":["Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, New York, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, New York, USA","institution_ids":["https://openalex.org/I186523950"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107872532","display_name":"Frederick E. Dewey","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I186523950","display_name":"Regeneron (United States)","ror":"https://ror.org/02f51rf24","country_code":"US","type":"company","lineage":["https://openalex.org/I186523950"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Frederick E. Dewey","raw_affiliation_strings":["Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, New York, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, New York, USA","institution_ids":["https://openalex.org/I186523950"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047442414","display_name":"Robert N. Jinks","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I173146385","display_name":"Franklin & Marshall College","ror":"https://ror.org/04fp4ps48","country_code":"US","type":"education","lineage":["https://openalex.org/I173146385"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Robert N. Jinks","raw_affiliation_strings":["Department of Biology, Franklin & Marshall College, Lancaster, Pennsylvania, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biology, Franklin & Marshall College, Lancaster, Pennsylvania, USA","institution_ids":["https://openalex.org/I173146385"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016841501","display_name":"Ian Finnegan","orcid":"https://orcid.org/0000-0001-8906-7110","observed_orcids":["https://orcid.org/0000-0001-8906-7110"]},"institutions":[{"id":"https://openalex.org/I173146385","display_name":"Franklin & Marshall College","ror":"https://ror.org/04fp4ps48","country_code":"US","type":"education","lineage":["https://openalex.org/I173146385"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ian Finnegan","raw_affiliation_strings":["Department of Biology, Franklin & Marshall College, Lancaster, Pennsylvania, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biology, Franklin & Marshall College, Lancaster, Pennsylvania, USA","institution_ids":["https://openalex.org/I173146385"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038455658","display_name":"Scott J. Mellis","orcid":"https://orcid.org/0009-0008-3991-2177","observed_orcids":["https://orcid.org/0009-0008-3991-2177"]},"institutions":[{"id":"https://openalex.org/I186523950","display_name":"Regeneron (United States)","ror":"https://ror.org/02f51rf24","country_code":"US","type":"company","lineage":["https://openalex.org/I186523950"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Scott J. Mellis","raw_affiliation_strings":["Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, New York, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, New York, USA","institution_ids":["https://openalex.org/I186523950"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009070946","display_name":"Alan R. Shuldiner","orcid":"https://orcid.org/0000-0001-9921-4305","observed_orcids":["https://orcid.org/0000-0001-9921-4305"]},"institutions":[{"id":"https://openalex.org/I186523950","display_name":"Regeneron (United States)","ror":"https://ror.org/02f51rf24","country_code":"US","type":"company","lineage":["https://openalex.org/I186523950"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alan R. Shuldiner","raw_affiliation_strings":["Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, New York, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, New York, USA","institution_ids":["https://openalex.org/I186523950"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5007057568","display_name":"Erik G. Puffenberger","orcid":"https://orcid.org/0000-0002-6388-9148","observed_orcids":["https://orcid.org/0000-0002-6388-9148"]},"institutions":[{"id":"https://openalex.org/I1305995100","display_name":"Clinic for Special Children","ror":"https://ror.org/04k1xjf56","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1305995100"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Erik G. Puffenberger","raw_affiliation_strings":["Clinic for Special Children, Strasburg, Pennsylvania, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinic for Special Children, Strasburg, Pennsylvania, USA","institution_ids":["https://openalex.org/I1305995100"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5022288358"],"corresponding_institution_ids":["https://openalex.org/I1305995100"],"apc_list":{"value":5110,"currency":"USD","value_usd":5110},"apc_paid":null,"fwci":3.6365,"has_fulltext":true,"cited_by_count":61,"citation_normalized_percentile":{"value":0.93770279,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"20","issue":"1","first_page":"31","last_page":"41"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/genomic-diagnostics","display_name":"genomic diagnostics","score":0.8149999976158142},{"id":"https://openalex.org/keywords/medically-underserved-populations","display_name":"medically underserved populations","score":0.8880000114440918},{"id":"https://openalex.org/keywords/endogamous-populations","display_name":"endogamous populations","score":0.7160000205039978},{"id":"https://openalex.org/keywords/uninsured-patients","display_name":"uninsured patients","score":0.6779999732971191},{"id":"https://openalex.org/keywords/rare-genetic-disorders","display_name":"rare genetic disorders","score":0.7929999828338623},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.8579999804496765},{"id":"https://openalex.org/keywords/chromosomal-microarray","display_name":"chromosomal microarray analysis","score":0.9919999837875366},{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.7279999852180481},{"id":"https://openalex.org/keywords/segregation-analysis","display_name":"segregation analysis","score":0.6700000166893005},{"id":"https://openalex.org/keywords/gene-discovery","display_name":"gene discovery","score":0.7799999713897705},{"id":"https://openalex.org/keywords/neurological-disorders","display_name":"neurological disorders","score":0.5770000219345093},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.3540000021457672}],"concepts":[{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.8652563095092773},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.7228326201438904},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5276578664779663},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5223285555839539},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5109659433364868},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.5061089396476746},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.4621008634567261},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4320544898509979},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3156663775444031},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.16208788752555847},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.1516198217868805},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10432395339012146},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":true},{"descriptor_ui":"D005826","descriptor_name":"Genetics, Medical","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D005826","descriptor_name":"Genetics, Medical","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011159","descriptor_name":"Population Surveillance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":true},{"descriptor_ui":"D033162","descriptor_name":"Incidental Findings","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D035862","descriptor_name":"Vulnerable Populations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D054625","descriptor_name":"Healthcare Disparities","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":true},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D057188","descriptor_name":"Workflow","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1038/gim.2017.76","doi":"https://doi.org/10.1038/gim.2017.76","is_oa":true,"landing_page_url":"https://doi.org/10.1038/gim.2017.76","pdf_url":"https://www.nature.com/articles/gim201776.pdf","source":{"id":"https://openalex.org/S187186932","display_name":"Genetics in Medicine","issn_l":"1098-3600","issn":["1098-3600","1530-0366"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics in Medicine","raw_type":"journal-article"},{"id":"pmid:28726809","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28726809","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics in medicine : official journal of the American College of Medical Genetics","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1038/gim.2017.76","doi":"https://doi.org/10.1038/gim.2017.76","is_oa":true,"landing_page_url":"https://doi.org/10.1038/gim.2017.76","pdf_url":"https://www.nature.com/articles/gim201776.pdf","source":{"id":"https://openalex.org/S187186932","display_name":"Genetics in Medicine","issn_l":"1098-3600","issn":["1098-3600","1530-0366"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics in Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9763000011444092}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320306082","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90"},{"id":"https://openalex.org/F4320311600","display_name":"Regeneron Pharmaceuticals","ror":"https://ror.org/02f51rf24"},{"id":"https://openalex.org/F4320322725","display_name":"China Scholarship Council","ror":"https://ror.org/04atp4p48"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2736973050.pdf","grobid_xml":"https://content.openalex.org/works/W2736973050.grobid-xml"},"referenced_works_count":38,"referenced_works":["https://openalex.org/W205913612","https://openalex.org/W1563698283","https://openalex.org/W1965503064","https://openalex.org/W1983651981","https://openalex.org/W2000053693","https://openalex.org/W2006873318","https://openalex.org/W2014321261","https://openalex.org/W2025280194","https://openalex.org/W2051978340","https://openalex.org/W2080770151","https://openalex.org/W2088645009","https://openalex.org/W2107407649","https://openalex.org/W2109038323","https://openalex.org/W2113656077","https://openalex.org/W2114377387","https://openalex.org/W2119818111","https://openalex.org/W2124586775","https://openalex.org/W2131587128","https://openalex.org/W2136941319","https://openalex.org/W2138033133","https://openalex.org/W2138956466","https://openalex.org/W2143887298","https://openalex.org/W2145922766","https://openalex.org/W2150333496","https://openalex.org/W2152732934","https://openalex.org/W2157372280","https://openalex.org/W2166014535","https://openalex.org/W2270303516","https://openalex.org/W2346737327","https://openalex.org/W2417707610","https://openalex.org/W2424763378","https://openalex.org/W2493460139","https://openalex.org/W2501688013","https://openalex.org/W2513287640","https://openalex.org/W2551645760","https://openalex.org/W2560641002","https://openalex.org/W4232522163","https://openalex.org/W4250349735"],"related_works":["https://openalex.org/W7161569790","https://openalex.org/W3122226413","https://openalex.org/W2886364682","https://openalex.org/W4412713507","https://openalex.org/W2335766317","https://openalex.org/W4407069091","https://openalex.org/W4404567562","https://openalex.org/W3008556694","https://openalex.org/W2587099115","https://openalex.org/W2966818639"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":7},{"year":2022,"cited_by_count":6},{"year":2021,"cited_by_count":11},{"year":2020,"cited_by_count":7},{"year":2019,"cited_by_count":9},{"year":2018,"cited_by_count":6},{"year":2017,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2017-07-31T00:00:00"}