{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Stenton SL"],"funding":["Manton Center for Orphan Disease Research","NICHD NIH HHS","King Abdullah University of Science and Technology (KAUST) Office of Sponsored Research","Mass General Brigham Training Program in Precision and Genomic Medicine","NHGRI NIH HHS","NLM NIH HHS","National Human Genome Research Institute","Chan Zuckerberg Initiative","National Institute of Child Health and Human Development","NIGMS NIH HHS","Fonds de recherche en santé du Quebec"],"pagination":["44"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11057178"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["18(1)"],"pubmed_abstract":["<h4>Background</h4>A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average \"diagnostic odyssey\" lasts over five years and causal variants are identified in under 50%, even when capturing variants genome-wide. To aid in the interpretation and prioritization of the vast number of variants detected, computational methods are proliferating. Knowing which tools are most effective remains unclear. To evaluate the performance of computational methods, and to encourage innovation in method development, we designed a Critical Assessment of Genome Interpretation (CAGI) community challenge to place variant prioritization models head-to-head in a real-life clinical diagnostic setting.<h4>Methods</h4>We utilized genome sequencing (GS) data from families seque"],"journal":["Human genomics"],"pubmed_title":["Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project."],"pmcid":["PMC11057178"],"funding_grant_id":["2020-224274","R01 HD103805","1R01HD103805‐01","U01 HG011755","T32 HG010464","U24 HG007346","U01 HG012022","NHGRI T32 HG10464","R00 LM012992","R35 GM124952","R01 HG009141","UM1HG008900, U01HG011755, R01HG009141","URF/1/4355-01-01, URF/1/4675-01-01, FCC/1/1976-34-01","UM1 HG008900"],"pubmed_authors":["Abdelhakim M","Nykamp K","Peng Y","Lu Y","Pham THC","Rehm HL","Mulargia M","Zeiberg D","De Paoli F","Williams A","Casadio R","Rao A","Singer-Berk M","Jacobsen JOB","Kint C","Hoehndorf R","O'Leary MC","Wang X","Shen Y","Wang Y","Podda MS","Osei-Owusu I","Weisburd B","VanNoy GE","Worthey EA","Lemire G","Mamidi TKK","Tiwari N","Sun Y","Floris M","Tan W","Radivojac P","Bellazzi R","Pais LS","Serrano J","Carta MG","Schols P","Zucca S","Rizzo E","Joseph T","Bakolitsa C","O'Heir E","Ganesh VS","Pejaver V","Althagafi A","Soru D","Sunderam U","Nicora G","Srinivasan R","Limongelli I","Austin-Tse C","Groopman E","Martelli PL","Smedley D","You Y","Babbi G","Stenton SL","Yin R","Bovo S","Sivadasan N","Coenen PJ","O'Donnell-Luria A","Gajapathy M","Mangilog B","Saipradeep VG","Fullerton SM","Kamandula A","Lichtarge O","Savojardo C","Brenner SE","Wilson MW","Magni P","DiTroia S","Katsonis P"],"additional_accession":[]},"is_claimable":false,"name":"Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.","description":"<h4>Background</h4>A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average \"diagnostic odyssey\" lasts over five years and causal variants are identified in under 50%, even when capturing variants genome-wide. To aid in the interpretation and prioritization of the vast number of variants detected, computational methods are proliferating. Knowing which tools are most effective remains unclear. To evaluate the performance of computational methods, and to encourage innovation in method development, we designed a Critical Assessment of Genome Interpretation (CAGI) community challenge to place variant prioritization models head-to-head in a real-life clinical diagnostic setting.<h4>Methods</h4>We utilized genome sequencing (GS) data from families seque","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Apr","modification":"2026-05-29T09:44:00.77Z","creation":"2025-07-27T03:11:03.752Z"},"accession":"S-EPMC11057178","cross_references":{"pubmed":["38685113"],"doi":["10.1186/s40246-024-00604-w"]}}