Authors
Jessica X Chong, Seth I Berger, Samantha Baxter, Erica Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, Siwaar Abouhala, Jessica Albert, Miguel Almalvez, Raquel Alvarez, Mutaz Amin, Peter Anderson, Swaroop Aradhya, Euan Ashley, Themistocles Assimes, Light Auriga, Christina Austin-Tse, Mike Bamshad, Hayk Barseghyan, Sairam Behera, Shaghayegh Beheshti, Gill Bejerano, Seth Berger, Jon Bernstein, Sabrina Best, Benjamin Blankenmeister, Elizabeth Blue, Eric Boerwinkle, Emily Bonkowski, Devon Bonner, Philip Boone, Miriam Bornhorst, Harrison Brand, Kati Buckingham, Daniel Calame, Jennefer Carter, Silvia Casadei, Lisa Chadwick, Clarisa Chavez, Ziwei Chen, Ivan Chinn, Jessica Chong, Zeynep Coban-Akdemir, Andrea J Cohen, Sarah Conner, Matthew Conomos, Karen Coveler, Ya Allen Cui, Sara Currin, Robert Daber, Zain Dardas, Colleen Davis, Moez Dawood, Ivan de Dios, Celine de Esch, Meghan Delaney, Emmanuele Delot, Harsha Doddapaneni, Haowei Du, Ruizhi Duan, Shannon Dugan-Perez, Nhat Duong, Michael Duyzend, Evan Eichler, Sara Emami, Jamie Fraser, Vincent Fusaro, Miranda Galey, Vijay Ganesh, Brandon Garcia, Kiran Garimella, Richard Gibbs, Casey Gifford, Amy Ginsburg, Page Goddard, Stephanie Gogarten, Nikhita Gogate, William Gordon, John E Gorzynski, William Greenleaf, Christopher Grochowski, Emily Groopman, Rodrigo Guarischi Sousa, Sanna Gudmundsson, Ashima Gulati, Stacey Hall, William Harvey, Megan Hawley, Ben Heavner, Martha Horike-Pyne, Jianhong Hu, Yongqing Huang, James Hwang, Gail Jarvik, Tanner Jensen, Shalini Jhangiani, David Jimenez-Morales, Christopher Jin, Ahmed K Saad, Amanda Kahn-Kirby, Jessica Kain, Parneet Kaur, Laura Keehan, Susan Knoblach, Arthur Ko, Anshul Kundaje, Soumya Kundu, Samuel M Lancaster, Katie Larsson, Arthur Lee, Gabrielle Lemire, Richard Lewis, Wei Li, Yidan Li, Pengfei Liu, Jonathan LoTempio, James Jim Lupski, Jialan Ma, Daniel MacArthur, Medhat Mahmoud, Nirav Malani, Brian Mangilog, Dana Marafi, Sofia Marmolejos, Daniel Marten, Eva Martinez, Colby Marvin, Shruti Marwaha, Francesco Kumara Mastrorosa, Dena Matalon, Susanne May, Sean McGee, Lauren Meador, Heather Mefford, Hector Rodrigo Mendez, Alexander Miller, Danny E Miller, Tadahiro Mitani, Stephen Montgomery, Mariana Moyses, Chloe Munderloh, Donna Muzny, Sarah Nelson, P Nguyen Thuy-mi, Jonathan Nguyen, Robert Nussbaum, Keith Nykamp
Publication date
2024/6/26
Journal
Genetics in Medicine
Pages
101199
Publisher
Elsevier
Description
Since the first novel gene discovery for a Mendelian condition was made via exome sequencing (ES), 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 disease. 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 contribute to novel gene discovery which should in turn increase the diagnostic yield for many conditions. However …
Scholar articles
JX Chong, SI Berger, S Baxter, E Smith, C Xiao… - Genetics in Medicine, 2024