{"id":"https://openalex.org/W4404582872","doi":"https://doi.org/10.1038/s41746-024-01331-1","title":"Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders","display_name":"Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders","publication_year":2024,"publication_date":"2024-11-21","ids":{"openalex":"https://openalex.org/W4404582872","doi":"https://doi.org/10.1038/s41746-024-01331-1","pmid":"https://pubmed.ncbi.nlm.nih.gov/39572625"},"language":"en","primary_location":{"id":"doi:10.1038/s41746-024-01331-1","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41746-024-01331-1","pdf_url":"https://www.nature.com/articles/s41746-024-01331-1.pdf","source":{"id":"https://openalex.org/S4210195431","display_name":"npj Digital Medicine","issn_l":"2398-6352","issn":["2398-6352"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"npj Digital Medicine","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.nature.com/articles/s41746-024-01331-1.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5084666933","display_name":"Fangyi Chen","orcid":"https://orcid.org/0000-0003-2926-1063"},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Fangyi Chen","raw_affiliation_strings":["Department of Biomedical Informatics, Columbia University, New York, NY, USA"],"raw_orcid":"https://orcid.org/0000-0003-2926-1063","affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Columbia University, New York, NY, USA","institution_ids":["https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047678246","display_name":"Priyanka Ahimaz","orcid":"https://orcid.org/0000-0001-5112-1599"},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Priyanka Ahimaz","raw_affiliation_strings":["Department of Pediatrics, Columbia University, New York, NY, USA","Institute of Genomic Medicine, Columbia University, New York, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Columbia University, New York, NY, USA","institution_ids":["https://openalex.org/I78577930"]},{"raw_affiliation_string":"Institute of Genomic Medicine, Columbia University, New York, NY, USA","institution_ids":["https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Quan M. Nguyen","orcid":null},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Quan M. Nguyen","raw_affiliation_strings":["Department of Bioengineering, University of Pennsylvania, Philadelphia, PA, USA","Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Bioengineering, University of Pennsylvania, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109295191","display_name":"Rachel Lewis","orcid":null},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rachel Lewis","raw_affiliation_strings":["Department of Pediatrics, Columbia University, New York, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Columbia University, New York, NY, USA","institution_ids":["https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018722278","display_name":"Wendy K. Chung","orcid":"https://orcid.org/0000-0003-3438-5685"},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Wendy K. Chung","raw_affiliation_strings":["Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA"],"raw_orcid":"https://orcid.org/0000-0003-3438-5685","affiliations":[{"raw_affiliation_string":"Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051450267","display_name":"Casey Ta","orcid":"https://orcid.org/0000-0002-4679-805X"},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Casey N. Ta","raw_affiliation_strings":["Department of Biomedical Informatics, Columbia University, New York, NY, USA"],"raw_orcid":"https://orcid.org/0000-0002-4679-805X","affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Columbia University, New York, NY, USA","institution_ids":["https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109498052","display_name":"Katherine M. Szigety","orcid":null},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Katherine M. Szigety","raw_affiliation_strings":["Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047941457","display_name":"Sarah E. Sheppard","orcid":"https://orcid.org/0000-0003-3480-8123"},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sarah E. Sheppard","raw_affiliation_strings":["Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070762803","display_name":"Ian M. Campbell","orcid":"https://orcid.org/0000-0002-3749-2884"},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ian M. Campbell","raw_affiliation_strings":["Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100437031","display_name":"Kai Wang","orcid":"https://orcid.org/0000-0002-5585-982X"},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kai Wang","raw_affiliation_strings":["Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":"https://orcid.org/0000-0002-5585-982X","affiliations":[{"raw_affiliation_string":"Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009604048","display_name":"Chunhua Weng","orcid":"https://orcid.org/0000-0002-9624-0214"},"institutions":[{"id":"https://openalex.org/I2799503643","display_name":"Columbia University Irving Medical Center","ror":"https://ror.org/01esghr10","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799503643"]},{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Chunhua Weng","raw_affiliation_strings":["Department of Biomedical Informatics, Columbia University, New York, NY, USA. cw2384@cumc.columbia.edu","Department of Biomedical Informatics, Columbia University, New York, NY, USA"],"raw_orcid":"https://orcid.org/0000-0002-9624-0214","affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Columbia University, New York, NY, USA. cw2384@cumc.columbia.edu","institution_ids":["https://openalex.org/I2799503643","https://openalex.org/I78577930"]},{"raw_affiliation_string":"Department of Biomedical Informatics, Columbia University, New York, NY, USA","institution_ids":["https://openalex.org/I78577930"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5100331534","display_name":"Cong Liu","orcid":"https://orcid.org/0000-0001-6024-3037"},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Cong Liu","raw_affiliation_strings":["Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. cong.liu@childrens.harvard.edu","Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA"],"raw_orcid":"https://orcid.org/0000-0001-6024-3037","affiliations":[{"raw_affiliation_string":"Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. cong.liu@childrens.harvard.edu","institution_ids":["https://openalex.org/I1288882113"]},{"raw_affiliation_string":"Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":12,"corresponding_author_ids":["https://openalex.org/A5084666933"],"corresponding_institution_ids":["https://openalex.org/I78577930"],"apc_list":{"value":3060,"currency":"USD","value_usd":3060},"apc_paid":{"value":3060,"currency":"USD","value_usd":3060},"fwci":5.5999,"has_fulltext":true,"cited_by_count":11,"citation_normalized_percentile":{"value":0.96224303,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":90,"max":99},"biblio":{"volume":"7","issue":"1","first_page":"333","last_page":"333"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9998000264167786,"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":0.9998000264167786,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9779999852180481,"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/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.9761000275611877,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/generalizability-theory","display_name":"Generalizability theory","score":0.7848119735717773},{"id":"https://openalex.org/keywords/medical-genetics","display_name":"Medical genetics","score":0.6412161588668823},{"id":"https://openalex.org/keywords/exome-sequencing","display_name":"Exome sequencing","score":0.6225747466087341},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"Genetic testing","score":0.5982521176338196},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.5149129629135132},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"Genetic diagnosis","score":0.5089149475097656},{"id":"https://openalex.org/keywords/disease","display_name":"Disease","score":0.4893454909324646},{"id":"https://openalex.org/keywords/medical-diagnosis","display_name":"Medical diagnosis","score":0.47803860902786255},{"id":"https://openalex.org/keywords/test","display_name":"Test (biology)","score":0.47545430064201355},{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.45604661107063293},{"id":"https://openalex.org/keywords/precision-medicine","display_name":"Precision medicine","score":0.4308626055717468},{"id":"https://openalex.org/keywords/bioinformatics","display_name":"Bioinformatics","score":0.37421122193336487},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.36446893215179443},{"id":"https://openalex.org/keywords/pediatrics","display_name":"Pediatrics","score":0.3637411594390869},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.3387826085090637},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.3136706054210663},{"id":"https://openalex.org/keywords/psychology","display_name":"Psychology","score":0.2679605782032013},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.2148684859275818},{"id":"https://openalex.org/keywords/internal-medicine","display_name":"Internal medicine","score":0.20106658339500427},{"id":"https://openalex.org/keywords/pathology","display_name":"Pathology","score":0.15602687001228333},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.14732837677001953},{"id":"https://openalex.org/keywords/developmental-psychology","display_name":"Developmental psychology","score":0.09654340147972107}],"concepts":[{"id":"https://openalex.org/C27158222","wikidata":"https://www.wikidata.org/wiki/Q5532422","display_name":"Generalizability theory","level":2,"score":0.7848119735717773},{"id":"https://openalex.org/C64474127","wikidata":"https://www.wikidata.org/wiki/Q1071953","display_name":"Medical genetics","level":3,"score":0.6412161588668823},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.6225747466087341},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.5982521176338196},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5149129629135132},{"id":"https://openalex.org/C2993153387","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic diagnosis","level":3,"score":0.5089149475097656},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4893454909324646},{"id":"https://openalex.org/C534262118","wikidata":"https://www.wikidata.org/wiki/Q177719","display_name":"Medical diagnosis","level":2,"score":0.47803860902786255},{"id":"https://openalex.org/C2777267654","wikidata":"https://www.wikidata.org/wiki/Q3519023","display_name":"Test (biology)","level":2,"score":0.47545430064201355},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.45604661107063293},{"id":"https://openalex.org/C163763905","wikidata":"https://www.wikidata.org/wiki/Q17075943","display_name":"Precision medicine","level":2,"score":0.4308626055717468},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.37421122193336487},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.36446893215179443},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3637411594390869},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3387826085090637},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3136706054210663},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.2679605782032013},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2148684859275818},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.20106658339500427},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.15602687001228333},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.14732837677001953},{"id":"https://openalex.org/C138496976","wikidata":"https://www.wikidata.org/wiki/Q175002","display_name":"Developmental psychology","level":1,"score":0.09654340147972107},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1038/s41746-024-01331-1","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41746-024-01331-1","pdf_url":"https://www.nature.com/articles/s41746-024-01331-1.pdf","source":{"id":"https://openalex.org/S4210195431","display_name":"npj Digital Medicine","issn_l":"2398-6352","issn":["2398-6352"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"npj Digital Medicine","raw_type":"journal-article"},{"id":"pmid:39572625","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39572625","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,"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":"NPJ digital medicine","raw_type":null},{"id":"pmh:oai:pubmedcentral.nih.gov:11582592","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11582592","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11582592/pdf/41746_2024_Article_1331.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"NPJ Digit Med","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:6b71b191111b487db60456a1fed57c16","is_oa":true,"landing_page_url":"https://doaj.org/article/6b71b191111b487db60456a1fed57c16","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"npj Digital Medicine, Vol 7, Iss 1, Pp 1-12 (2024)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1038/s41746-024-01331-1","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41746-024-01331-1","pdf_url":"https://www.nature.com/articles/s41746-024-01331-1.pdf","source":{"id":"https://openalex.org/S4210195431","display_name":"npj Digital Medicine","issn_l":"2398-6352","issn":["2398-6352"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"npj Digital Medicine","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G1172121642","display_name":null,"funder_award_id":"UL1TR001873","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G1584075922","display_name":null,"funder_award_id":"UL1TR001873","funder_id":"https://openalex.org/F4320337472","funder_display_name":"National Center for Advancing Translational Sciences"},{"id":"https://openalex.org/G7552868180","display_name":null,"funder_award_id":"R01HG012655","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"id":"https://openalex.org/F4320337472","display_name":"National Center for Advancing Translational Sciences","ror":"https://ror.org/04pw6fb54"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4404582872.pdf","grobid_xml":"https://content.openalex.org/works/W4404582872.grobid-xml"},"referenced_works_count":55,"referenced_works":["https://openalex.org/W954754213","https://openalex.org/W1969208427","https://openalex.org/W1993034655","https://openalex.org/W1999451199","https://openalex.org/W2013075925","https://openalex.org/W2038709201","https://openalex.org/W2039510561","https://openalex.org/W2051978340","https://openalex.org/W2110497403","https://openalex.org/W2118852336","https://openalex.org/W2127006085","https://openalex.org/W2136410628","https://openalex.org/W2139766063","https://openalex.org/W2148143831","https://openalex.org/W2156443053","https://openalex.org/W2468887307","https://openalex.org/W2501688013","https://openalex.org/W2516516428","https://openalex.org/W2564202966","https://openalex.org/W2605691282","https://openalex.org/W2729734683","https://openalex.org/W2739896399","https://openalex.org/W2742511589","https://openalex.org/W2743245152","https://openalex.org/W2783464703","https://openalex.org/W2791448302","https://openalex.org/W2807825452","https://openalex.org/W2888967035","https://openalex.org/W2899298288","https://openalex.org/W2913889472","https://openalex.org/W2939955626","https://openalex.org/W2946102094","https://openalex.org/W2948909602","https://openalex.org/W2972170887","https://openalex.org/W2991319174","https://openalex.org/W3031191781","https://openalex.org/W3047648154","https://openalex.org/W3082379196","https://openalex.org/W3087028093","https://openalex.org/W3092133775","https://openalex.org/W3096103868","https://openalex.org/W3113054823","https://openalex.org/W3152698247","https://openalex.org/W3155076290","https://openalex.org/W3163968156","https://openalex.org/W3171324702","https://openalex.org/W3174033603","https://openalex.org/W4211201735","https://openalex.org/W4280536906","https://openalex.org/W4292633571","https://openalex.org/W4362668885","https://openalex.org/W4368616878","https://openalex.org/W4382584844","https://openalex.org/W4385848332","https://openalex.org/W4386100644"],"related_works":["https://openalex.org/W2118717649","https://openalex.org/W2413243053","https://openalex.org/W410723623","https://openalex.org/W2015341305","https://openalex.org/W4220746249","https://openalex.org/W1559844744","https://openalex.org/W2084504881","https://openalex.org/W2053271151","https://openalex.org/W2988743093","https://openalex.org/W4205361082"],"abstract_inverted_index":{"Patients":[0],"with":[1,105,116],"rare":[2,142],"diseases":[3],"often":[4],"experience":[5],"prolonged":[6],"diagnostic":[7],"delays.":[8],"Ordering":[9],"appropriate":[10,91],"genetic":[11,22,92,120,147],"tests":[12,93],"is":[13],"crucial":[14],"yet":[15],"challenging,":[16],"especially":[17],"for":[18,43,56,137],"general":[19,138],"pediatricians":[20,139],"without":[21],"expertise.":[23],"Recent":[24],"American":[25],"College":[26],"of":[27,35,61,108,112],"Medical":[28,87],"Genetics":[29],"(ACMG)":[30],"guidelines":[31],"embrace":[32],"early":[33],"use":[34],"exome":[36],"sequencing":[37,41],"(ES)":[38],"or":[39,48],"genome":[40],"(GS)":[42],"conditions":[44],"like":[45],"congenital":[46],"anomalies":[47],"developmental":[49],"delays":[50],"while":[51],"still":[52],"recommend":[53,90],"gene":[54],"panels":[55],"patients":[57],"exhibiting":[58],"strong":[59,124],"manifestations":[60],"a":[62,74,102],"specific":[63],"disease.":[64],"Recognizing":[65],"the":[66,96],"difficulty":[67],"in":[68,129],"navigating":[69],"these":[70],"options,":[71],"we":[72],"developed":[73],"machine":[75],"learning":[76],"model":[77,100],"trained":[78],"on":[79,95],"1005":[80],"patient":[81],"records":[82],"from":[83],"Columbia":[84],"University":[85],"Irving":[86],"Center":[88],"to":[89,140],"based":[94],"phenotype":[97],"information.":[98],"The":[99],"achieved":[101],"remarkable":[103],"performance":[104],"an":[106,130],"AUROC":[107],"0.823":[109],"and":[110,122],"AUPRC":[111],"0.918,":[113],"aligning":[114],"closely":[115],"decisions":[117],"made":[118],"by":[119,145],"specialists,":[121],"demonstrated":[123],"generalizability":[125],"(AUROC:0.77,":[126],"AUPRC:":[127],"0.816)":[128],"external":[131],"cohort,":[132],"indicating":[133],"its":[134],"potential":[135],"value":[136],"expedite":[141],"disease":[143],"diagnosis":[144],"enhancing":[146],"test":[148],"ordering.":[149]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":1}],"updated_date":"2026-05-06T08:25:59.206177","created_date":"2025-10-10T00:00:00"}
