{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Cooperstein IB"],"funding":["NHGRI AGMR"],"pagination":["127"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12539062"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["17(1)"],"pubmed_abstract":["<h4>Background</h4>Exome sequencing (ES) and genome sequencing (GS) are increasingly used as standard genetic tests to identify diagnostic variants in rare disease cases. However, prioritizing these variants to reduce the time and burden of manual interpretation by clinical teams remains a significant challenge. The Exomiser/Genomiser software suite is the most widely adopted open-source software for prioritizing coding and noncoding variants. Despite its ubiquitous use, limited data-driven guidelines currently exist to optimize its performance for diagnostic variant prioritization. Based on detailed analyses of Undiagnosed Diseases Network (UDN) probands, this study presents optimized parameters and practical recommendations for deploying the Exomiser and Genomiser tools. We also highligh"],"journal":["Genome medicine"],"pubmed_title":["An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser."],"pmcid":["PMC12539062"],"funding_grant_id":["RO1HG012286"],"pubmed_authors":["Douglas J","Dasari S","Cole FS","Undiagnosed Diseases Network","Bachir S","Emrick LT","McRoy E","Skelton T","Wener M","Bale A","Novacic D","Callaway K","Attaripour S","Regan-Fendt K","Taylor H","Rajagopalan R","Worley K","Auwaerter P","Bier L","Cuddapah V","Carter JN","Butte MJ","Walker M","Jobanputra V","Stoler JM","Gorzynski JE","Perera L","Ezell K","Dickson P","Jean-Marie O","Karasozen Y","Leppig KA","Bonner D","Xu H","Gropman A","Verbsky J","Berger P","Seto E","Vetrini F","Coakley TR","Keehan L","Pallais JC","Fieg EL","Bellen HJ","Acosta MT","Gerstein M","Nagamani S","Hurst A","Montgomery SB","Muriello M","Lanza IR","Rebelo A","Silverman EK","Vasiliou V","Dargie NK","Sirugo G","Elkadri A","Jarvik GP","Vogel TP","Adams DR","Butterfield R","Miller A","Prada C","Mendez HR","Martin MG","Derar N","Byers P","Schymick J","Maurer T","Shelkowitz E","Bordini B","Fisher PG","Fogel BL","Jensen TD","Mamidi TK","Lanpher BC","Scott DA","Barbosa M","Smith CA","Vilain E","Phillips JA","Whitlock J","Petcharet L","Jiang YH","McCarrier J","Sweetser DA","Timp W","Koziura M","Ware SM","Sobreira N","Alvey J","Tran AA","Marth GT","Macnamara EF","Cobban LA","Nicholas TJ","Witmer PD","Washington T","Raper A","Chan CH","Davis J","Korf B","Davis E","Tarakad A","Paul A","Liaqat K","Marth G","Cogan JD","Abi Farraj LF","Allenspach E","Mulvihill L","Gayle E","Tabor HK","Bivona S","Pusey Swerdzewski BN","Gonzalez JM","Mozaffar T","Vairo FPE","Mantcheva L","Li R","Slavotinek A","Balwani M","Might M","Craigen WJ","Blieden L","Wangler MF","Zuchner S","Hisama FM","Bayrak-Toydemir P","Martin BA","Mayhew C","Longo N","Ketkar S","Rosenfeld JA","Skraban C","Balton E","Mao R","Sullivan K","Liu P","Wambach J","Alvarez RL","Lalani SR","Dorrani N","Parker NH","Blue E","Spencer-Manzon M","Boyden S","Sayer D","Orengo JP","Blanco K","Thorson W","Wheeler MT","Horike-Pyne M","Martinez-Agosto JA","Baldwin EE","Carvalho G","Kilich G","Blackburn R","Bell M","Bamshad M","Zimmermann MT","Beagle T","Graham BH","Tekin M","Eng CM","D'Souza P","Hom J","Hoover-Fong J","Kravets E","Gelb B","Jeffries L","Peart L","Hanchard N","Guo Z","Treat KM","Zhang H","Schend J","Bastarache L","Nelson SF","Smith KS","Halley MC","Page K","Sybert V","Latchman K","Delgado M","Introne W","Tifft CJ","Cooperstein IB","Baldridge D","Lewis RA","Darr K","Solomon B","Holm IA","Solnica-Krezel L","Clark GD","Silva MP","Hendry C","Chao EC","Rodan LH","Afzali B","Corona RI","Berger ZD","Kohane IS","Byrd WE","Kaufman O","Mane S","Shuman S","Potocki L","Moretti P","Crouse AB","Glass I","Miller DE","Mikati M","Wegner D","Mendonca E","Rives L","Coggins M","Serrano TJ","Andrews A","Kiley D","Kohler JN","Shashi V","Behrens E","Sandmeyer S","Shadrina M","Vargas A","Yap KL","Botto L","Ashley EA","Wilk BM","Bacino CA","Chanprasert S","Barbouth D","Halstead W","Briere LC","Quinlan A","Evard R","Malicdan MV","Chang R","Shyr C","Quarells RC","Perlman S","Wiel L","Welt CK","Pardo-Villamizar CA","Wood H","Emami S","Beggs AH","Marwaha S","Nakano-Okuno M","Huang Y","Hamid R","Steenari MR","Fu J","Romero MJO","Mitchell B","McMullen P","Reuter CM","Tousseau J","Xiao C","Wohler E","Dai H","Spillmann RC","Shin S","Sisco K","Goddard PC","Vanderver A","Glanton E","Wang E","Balasubramanyam A","Shin J","Burrage LC","Morimoto M","Schoch K","Iverson A","Marom R","Kumar R","Ungar RA","Sunyaev SR","Toro C","Abdenur J","Manabe Y","Lee BH","Basel D","Chao HT","Saifeddine M","Cassini T","Esteves C","Huang A","Oglesbee D","Leitheiser M","Krokosky A","Jen J","Oladele C","Cunningham-Rundles C","Velinder M","Worthey EA","McConkie-Rosell A","Stergachis A","Maduro VV","Ganetzky R","Yamamoto S","Viskochil D","Carey J","Sninsky J","Sampson JB","Gamazon E","Bademci G","Velasq FB","Ward A","Russell BE","High F","Bernstein JA","Pak SC","Berry GT","Tan Q","Rader DJ","Lek M","Burke EA","Rodriguez M","Levanto M","Ward I","Kobren SN","Tucker B","LeBlanc K","Rossignol F","Walley NM","Hassey K","Ward PA","MacRae CA","Hubshman MW","Rosenthal E","Chinn I","Klee E","Mirzaa G","Conboy E","Nouraee A","Anguiano B","Morgan J","Lertwilaiwittaya P","Robinson M","Maas RL","Mulvihill JJ","Loscalzo J","Gahl WA","Schedl T","Rao DA","La Spada AR","Schimmenti L","McMinn A","Dipple K","Kanca O","Wolfe LA","Overbury R","Korrick S","Raskind W","Dell'Angelica EC","Borja N","Westerfield M","Wahl CE","Sabaii M","Barrick R"],"additional_accession":[]},"is_claimable":false,"name":"An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser.","description":"<h4>Background</h4>Exome sequencing (ES) and genome sequencing (GS) are increasingly used as standard genetic tests to identify diagnostic variants in rare disease cases. However, prioritizing these variants to reduce the time and burden of manual interpretation by clinical teams remains a significant challenge. The Exomiser/Genomiser software suite is the most widely adopted open-source software for prioritizing coding and noncoding variants. Despite its ubiquitous use, limited data-driven guidelines currently exist to optimize its performance for diagnostic variant prioritization. Based on detailed analyses of Undiagnosed Diseases Network (UDN) probands, this study presents optimized parameters and practical recommendations for deploying the Exomiser and Genomiser tools. We also highligh","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Oct","modification":"2026-06-04T16:30:41.913Z","creation":"2026-05-13T14:24:14.341Z"},"accession":"S-EPMC12539062","cross_references":{"pubmed":["41121346"],"doi":["10.1186/s13073-025-01546-1"]}}