Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases by Emily Alsentzer, Michelle M. Li, Shilpa N. Kobren, Ayush Noori, Undiagnosed Diseases Network, Isaac S. Kohane, Marinka Zitnik

Get full text

Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing by Thomas Cassini, Sarah Silverstein, Molly Behan, Cynthia J. Tifft, May Christine Malicdan, David R. Adams, Undiagnosed Diseases Network, Sun‐Young Ahn, Debra S. Regier

Get full text

P708: Investigating the diagnostic yield of long read sequencing in a selected cohort of families with undiagnosed disease by John O'Shea, Robert Lewis, Alexandra Rangel, Brendan O'Fallon, Andrew Dixon, Christina Glenzel, Megan Hirschi, Erica Clyde, Undiagnosed Diseases Network, Erin Baldwin, Ashley Andrews, Lorenzo Botto, Pinar Bayrak-Toydemir, Rong Mao

Get full text

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations by Shilpa Nadimpalli Kobren, Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum, Alexander Veit, Rosario I. Corona, George de V. Carvalho Neto, Julian Willett, Michele Berselli, William Ronchetti, Stanley F. Nelson, Julian A. Martinez-Agosto, Richard Sherwood, Joel Krier, Isaac S. Kohane, Undiagnosed Diseases Network, Shamil R. Sunyaev

Get full text