Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

Author:

Pucel JennaORCID,Briere Lauren C.,Reuter Chloe,Gochyyev Perman,Acosta Maria T.,Adams David R.,Alvarez Raquel L.,Alvey Justin,Allworth Aimee,Andrews Ashley,Ashley Euan A.,Bacino Carlos A.,Bademci Guney,Balasubramanyam Ashok,Baldridge Dustin,Bale Jim,Bamshad Michael,Barbouth Deborah,Bayrak-Toydemir Pinar,Beck Anita,Beggs Alan H.,Behrens Edward,Bejerano Gill,Bellen Hugo J.,Bennett Jimmy,Bernstein Jonathan A.,Berry Gerard T.,Bican Anna,Bivona Stephanie,Blue Elizabeth,Bohnsack John,Bonner Devon,Botto Lorenzo,Briere Lauren C.,Brown Gabrielle,Burke Elizabeth A.,Burrage Lindsay C.,Butte Manish J.,Byers Peter,Byrd William E.,Carey John,Carrasquillo Olveen,Cassini Thomas,Peter Chang Ta Chen,Chanprasert Sirisak,Chao Hsiao-Tuan,Chinn Ivan,Clark Gary D.,Coakley Terra R.,Cobban Laurel A.,Cogan Joy D.,Coggins Matthew,Cole F. Sessions,Colley Heather A.,Cope Heidi,Corona Rosario,Craigen William J.,Crouse Andrew B.,Cunningham Michael,D’Souza Precilla,Dai Hongzheng,Dasari Surendra,Davis Joie,Dayal Jyoti G.,Dell'Angelica Esteban C.,Dipple Katrina,Doherty Daniel,Dorrani Naghmeh,Doss Argenia L.,Douine Emilie D.,Earl Dawn,Eckstein David J.,Emrick Lisa T.,Eng Christine M.,Falk Marni,Fieg Elizabeth L.,Fisher Paul G.,Fogel Brent L.,Forghani Irman,Gahl William A.,Glass Ian,Gochuico Bernadette,Goddard Page C.,Godfrey Rena A.,Grajewski Alana,Hadley Don,Halley Meghan C.,Hamid Rizwan,Hassey Kelly,Hayes Nichole,High Frances,Hing Anne,Hisama Fuki M.,Holm Ingrid A.,Hom Jason,Horike-Pyne Martha,Huang Alden,Hutchison Sarah,Introne Wendy,Isasi Rosario,Izumi Kosuke,Jarvik Gail P.,Jarvik Jeffrey,Jayadev Suman,Jean-Marie Orpa,Jobanputra Vaidehi,Kaitryn Emerald,Ketkar Shamika,Kiley Dana,Kilich Gonench,Kobren Shilpa N.,Kohane Isaac S.,Kohler Jennefer N.,Korrick Susan,Krakow Deborah,Krasnewich Donna M.,Kravets Elijah,Lalani Seema R.,Lam Byron,Lam Christina,Lanpher Brendan C.,Lanza Ian R.,LeBlanc Kimberly,Lee Brendan H.,Levitt Roy,Lewis Richard A.,Liu Pengfei,Liu Xue Zhong,Longo Nicola,Loo Sandra K.,Loscalzo Joseph,Maas Richard L.,Macnamara Ellen F.,MacRae Calum A.,Maduro Valerie V.,Maghiro AudreyStephannie,Mahoney Rachel,Malicdan May Christine V.,Mamounas Laura A.,Manolio Teri A.,Mao Rong,Marom Ronit,Marth Gabor,Martin Beth A.,Martin Martin G.,Martínez-Agosto Julian A.,Marwaha Shruti,McCauley Jacob,McConkie-Rosell Allyn,McCray Alexa T.,McGee Elisabeth,Might Matthew,Miller Danny,Mirzaa Ghayda,Morava Eva,Moretti Paolo,Mulvihill John J.,Nakano-Okuno Mariko,Nelson Stanley F.,Nieves-Rodriguez Shirley,Novacic Donna,Oglesbee Devin,Orengo James P.,Pace Laura,Pak Stephen,Pallais J. Carl,Palmer Christina G.S.,Papp Jeanette C.,Parker Neil H.,Phillips John A.,Posey Jennifer E.,Potocki Lorraine,Pusey Swerdzewski Barbara N.,Quinlan Aaron,Rao Deepak A.,Raper Anna,Raskind Wendy,Renteria Genecee,Reuter Chloe M.,Rives Lynette,Robertson Amy K.,Rodan Lance H.,Rosenfeld Jill A.,Rosenthal Elizabeth,Rossignol Francis,Ruzhnikov Maura,Sacco Ralph,Sampson Jacinda B.,Saporta Mario,Schaechter Judy,Schedl Timothy,Schoch Kelly,Scott Daryl A.,Seto Elaine,Shashi Vandana,Shelkowitz Emily,Sheppeard Sam,Shin Jimann,Silverman Edwin K.,Sinsheimer Janet S.,Sisco Kathy,Smith Edward C.,Smith Kevin S.,Solnica-Krezel Lilianna,Solomon Ben,Spillmann Rebecca C.,Stergachis Andrew,Stoler Joan M.,Sullivan Kathleen,Sullivan Jennifer A.,Sutton Shirley,Sweetser David A.,Sybert Virginia,Tabor Holly K.,Tan Queenie K.-G.,Tan Amelia L.M.,Tarakad Arjun,Tekin Mustafa,Telischi Fred,Thorson Willa,Tifft Cynthia J.,Toro Camilo,Tran Alyssa A.,Ungar Rachel A.,Urv Tiina K.,Vanderver Adeline,Velinder Matt,Viskochil Dave,Vogel Tiphanie P.,Wahl Colleen E.,Walker Melissa,Walley Nicole M.,Wambach Jennifer,Wan Jijun,Wang Lee-kai,Wangler Michael F.,Ward Patricia A.,Wegner Daniel,Hubshman Monika Weisz,Wener Mark,Wenger Tara,Westerfield Monte,Wheeler Matthew T.,Whitlock Jordan,Wolfe Lynne A.,Worley Kim,Xiao Changrui,Yamamoto Shinya,Yang John,Zhang Zhe,Zuchner Stephan,LeBlanc Kimberly

Funder

National Institutes of Health

Publisher

Elsevier BV

Reference40 articles.

1. How many rare diseases are there?;Haendel;Nat Rev Drug Discov,2020

2. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database;Nguengang;Eur J Hum Genet,2020

3. A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network;Spillmann;Orphanet J Rare Dis,2017

4. The national economic burden of rare disease in the United States in 2019;Yang;Orphanet J Rare Dis,2022

5. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome;Marwaha;Genome Med,2022

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