{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Chong JX"],"funding":["NHGRI","NHGRI NIH HHS","NINDS NIH HHS","National Institutes of Health"],"pagination":["101199"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11456385"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["26(10)"],"pubmed_abstract":["Since the first novel gene discovery for a Mendelian condition was made via exome sequencing, the rapid increase in the number of genes known to underlie Mendelian conditions coupled with the adoption of exome (and more recently, genome) sequencing by diagnostic testing labs has changed the landscape of genomic testing for rare diseases. Specifically, many individuals suspected to have a Mendelian condition are now routinely offered clinical ES. This commonly results in a precise genetic diagnosis but frequently overlooks the identification of novel candidate genes. Such candidates are also less likely to be identified in the absence of large-scale gene discovery research programs. Accordingly, clinical laboratories have both the opportunity, and some might argue a responsibility, to contr"],"journal":["Genetics in medicine : official journal of the American College of Medical Genetics"],"pubmed_title":["Considerations for reporting variants in novel candidate genes identified during clinical genomic testing."],"pmcid":["PMC11456385"],"funding_grant_id":["U01 HG011758","U01 HG011745","U01 HG011744","U01 HG011755","U01 NS134358","U24HG011746","U01HG011758","U24 HG011746","U01HG011745","U01HG011744","U01HG011755","U01 HG011762","U01HG011762"],"pubmed_authors":["Ungar R","de Esch C","Galey M","Lupski JJ","Dawood M","MacArthur D","Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium","Walker K","Mastrorosa FK","Gorzynski JE","Sedlazeck F","Tsao P","Saad AK","Bonner D","Hall S","Marvin C","Muzny D","Hu J","Yuan B","Keehan L","Stark B","Moyses M","Stilp A","Abouhala S","Berger S","Petrowski P","Pitsava G","Rubio O","May S","Berger SI","Gulati A","Marmolejos S","Yadav R","Zhao J","Miller A","Mendez HR","Wong Q","Calame DG","Pais L","Coban-Akdemir Z","Olsen J","Vilain E","Assimes T","Snyder M","Nykamp K","Tai JC","Goddard P","Ko A","Blankenmeister B","Rivera-Munoz EA","Savage S","Ginsburg A","Almalvez M","Carter J","Delot E","Grochowski C","Sousa RG","Chen Z","Aradhya S","Fraser J","Davis C","Ashley E","Brand H","Samocha K","Fusaro V","Bejerano G","Jarvik G","VanNoy G","Lewis R","Kundaje A","Li W","Pehlivan D","Casadei S","Li Y","Gifford C","Nelson S","Sanchis-Juan A","Dardas Z","Du H","Garcia B","Martinez E","O'Callaghan W","Quertermous T","Scott E","Conomos M","Daber R","Liu P","Matalon D","Weiss J","Nussbaum R","Scott S","Ganesh V","Blue E","Jensen T","Alvarez R","Nguyen TP","Austin-Tse C","Groopman E","Horike-Pyne M","Jimenez-Morales D","Bornhorst M","Payne S","Shojaie A","LoTempio J","O'Donnell-Luria A","Hwang J","de Dios I","Snow H","Mangilog B","Bamshad M","Padhi E","Albert J","Anderson P","Jhangiani S","Gudmundsson S","Prosser J","Ma J","Porter E","Kahn-Kirby A","Patterson K","Barseghyan H","Kain J","Shah G","Wilson M","Pham A","Mahmoud M","Gordon W","Wellington C","Jin C","Salani M","Montgomery S","Baxter S","Eichler E","Malani N","Osei-Owusu I","Chong J","Podesta AS","Richardson M","Rai A","Duyzend M","Hawley MH","Miller DE","Bernstein J","Harvey W","Amin M","Currin S","Talkowski MM","Cui YA","Panchal P","Stenton S","Yi Q","Hawley M","O'Heir E","Dugan-Perez S","O'Leary M","Best S","Lee A","Greenleaf W","Ramani A","Conner S","Wheeler M","Bonkowski E","Wei CL","Behera S","Ponce S","Zhou H","Tise C","Tong CC","Rivera-Munoz A","Wojcik M","Meador L","Munderloh C","Wiel L","Rehm H","Emami S","Marwaha S","Auriga L","Huang Y","Gibbs R","Xiao C","Mitani T","Buckingham K","Chadwick L","Westheimer E","Rehm HL","Larsson K","Boerwinkle E","Kaur P","Coveler K","Marafi D","Marten D","Singh M","Weng Z","Duong N","Zhen J","Weisburd B","Lemire G","Stergachis A","Lancaster SM","Calame D","Beheshti S","Chavez C","Gogarten S","Sabo A","Socarras K","Heavner B","Delaney M","Chong JX","Gogate N","Mefford H","Cohen AJ","Chinn I","Boone P","Doddapaneni H","Knoblach S","McGee S","Reuter J","Smith E","Starita L","Nguyen J","Reuter C","Smith K","Smith J","Bamshad MJ","Posey J","Voutos I","Sutton VR","Duan R","Garimella K","DiTroia S","Kundu S","Pan M"],"additional_accession":[]},"is_claimable":false,"name":"Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.","description":"Since the first novel gene discovery for a Mendelian condition was made via exome sequencing, the rapid increase in the number of genes known to underlie Mendelian conditions coupled with the adoption of exome (and more recently, genome) sequencing by diagnostic testing labs has changed the landscape of genomic testing for rare diseases. Specifically, many individuals suspected to have a Mendelian condition are now routinely offered clinical ES. This commonly results in a precise genetic diagnosis but frequently overlooks the identification of novel candidate genes. Such candidates are also less likely to be identified in the absence of large-scale gene discovery research programs. Accordingly, clinical laboratories have both the opportunity, and some might argue a responsibility, to contr","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Oct","modification":"2026-06-04T00:02:45.776Z","creation":"2026-05-03T03:12:34.781Z"},"accession":"S-EPMC11456385","cross_references":{"pubmed":["38944749"],"doi":["10.1016/j.gim.2024.101199"]}}