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A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network
Authors :
Spillmann, Rebecca C. Tan, Queenie K.-G. Reuter, Chloe Schoch, Kelly Kohler, Jennefer Bonner, Devon Zastrow, Diane Alkelai, Anna Baugh, Evan Cope, Heidi Marwaha, Shruti Wheeler, Matthew T. Bernstein, Jonathan A. Shashi, Vandana Acosta, Maria T. Adam, Margaret Adams, David R. Alvey, Justin Amendola, Laura Andrews, Ashley Ashley, Euan A. Azamian, Mahshid S. 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. Bennet, Jimmy Berg-Rood, Beverly Bernstein, Jonathan A. Berry, Gerard T. Bican, Anna Bivona, Stephanie Blue, Elizabeth Bohnsack, John Bonner, Devon Botto, Lorenzo Boyd, Brenna Briere, Lauren C. Brokamp, Elly 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 Clark, Gary D. Coakley, Terra R. Cobban, Laurel A. Cogan, Joy D. Coggins, Matthew Cole, F. Sessions Colley, Heather A. Cooper, Cynthia M. Craigen, William J. Crouse, Andrew B. Cunningham, Michael D’Souza, Precilla Dai, Hongzheng Dasari, Surendra Davis, Joie Dayal, Jyoti G. Deardorff, Matthew Dell’Angelica, Esteban C. Dipple, Katrina Doherty, Daniel Dorrani, Naghmeh Doss, Argenia L. Douine, Emilie D. Duncan, Laura Earl, Dawn Eckstein, David J. Emrick, Lisa T. Eng, Christine M. Esteves, Cecilia Falk, Marni Fernandez, Liliana Fieg, Elizabeth L. Fisher, Paul G. Fogel, Brent L. Forghani, Irman Gahl, William A. Glass, Ian Gochuico, Bernadette Godfrey, Rena A. Golden-Grant, Katie Goldrich, Madison P. Grajewski, Alana Gutierrez, Irma Hadley, Don Hahn, Sihoun Hamid, Rizwan Hassey, Kelly Hayes, Nichole High, Frances Hing, Anne Hisama, Fuki M. Holm, Ingrid A. Hom, Jason Horike-Pyne, Martha Huang, Alden Huang, Yong Introne, Wendy Isasi, Rosario Izumi, Kosuke Jamal, Fariha Jarvik, Gail P. Jarvik, Jeffrey Jayadev, Suman Jean-Marie, Orpa Jobanputra, Vaidehi Karaviti, Lefkothea Kennedy, Jennifer Ketkar, Shamika Kiley, Dana Kilich, Gonench Kobren, Shilpa N. Kohane, Isaac S. Kohler, Jennefer N. Krakow, Deborah Krasnewich, Donna M. Kravets, Elijah Korrick, Susan Koziura, Mary Lalani, Seema R. Lam, Byron Lam, Christina LaMoure, Grace L. 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. Mahoney, Rachel Mak, Bryan C. Malicdan, May Christine V. Mamounas, Laura A. Manolio, Teri A. Mao, Rong Maravilla, Kenneth 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 Mefford, Heather Merritt, J. Lawrence Might, Matthew Mirzaa, Ghayda Morava, Eva Moretti, Paolo M. Nakano-Okuno, Mariko Nelson, Stan F. Newman, John H. Nicholas, Sarah K. Nickerson, Deborah 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, Barbara N. Quinlan, Aaron Raskind, Wendy Raja, Archana N. Rao, Deepak A. Raper, Anna Renteria, Genecee Reuter, Chloe M. Rives, Lynette Robertson, Amy K. Rodan, Lance H. Rosenfeld, Jill A. Rosenwasser, Natalie Rossignol, Francis Ruzhnikov, Maura Sacco, Ralph Sampson, Jacinda B. Saporta, Mario Schaechter, Judy Schedl, Timothy Schoch, Kelly Scott, C. Ron Scott, Daryl A. Shashi, Vandana Shin, Jimann Silverman, Edwin K. Sinsheimer, Janet S. Sisco, Kathy Smith, Edward C. Smith, Kevin S. Solem, Emily Solnica-Krezel, Lilianna Solomon, Ben Spillmann, Rebecca C. Stoler, Joan M. Sullivan, Jennifer A. Sullivan, Kathleen Sun, Angela Sutton, Shirley Sweetser, David A. Sybert, Virginia Tabor, Holly K. Tan, Amelia L.M. Tan, Queenie K.-G. Tekin, Mustafa Telischi, Fred Thorson, Willa Tifft, Cynthia J. Toro, Camilo Tran, Alyssa A. Tucker, Brianna M. Urv, Tiina K. Vanderver, Adeline Velinder, Matt Viskochil, Dave Vogel, Tiphanie P. Wahl, Colleen E. Walker, Melissa Wallace, Stephanie Walley, Nicole M. Wambach, Jennifer Wan, Jijun Wang, Lee-kai Wangler, Michael F. Ward, Patricia A. Wegner, Daniel Weisz-Hubshman, Monika Wener, Mark Wenger, Tara Perry, Katherine Wesseling Westerfield, Monte Wheeler, Matthew T. Whitlock, Jordan Wolfe, Lynne A. Worley, Kim Xiao, Changrui Yamamoto, Shinya Yang, John Zastrow, Diane B. Zhang, Zhe Zhao, Chunli Zuchner, Stephan
Source :
Genetics in Medicine; April 2023, Vol. 25 Issue: 4
Publication Year :
2023
Abstract
Next-generation sequencing (NGS) has revolutionized the diagnostic process for rare/ultrarare conditions. However, diagnosis rates differ between analytical pipelines. In the National Institutes of Health-Undiagnosed Diseases Network (UDN) study, each individual’s NGS data are concurrently analyzed by the UDN sequencing core laboratory and the clinical sites. We examined the outcomes of this practice.
Details
Language :
English
ISSN :
10983600 and 15300366
Volume :
25
Issue :
4
Database :
Supplemental Index
Journal :
Genetics in Medicine
Publication Type :
Periodical
Accession number :
ejs61301691
Full Text :
https://doi.org/10.1016/j.gim.2022.12.001