Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
Gabrielle Lemire(Broad Institute), Ana Töpf(NIHR Newcastle Biomedical Research Centre), Vijay G. Sankaran(Broad Institute), Christopher A. Walsh(Boston Children's Hospital), Stephanie DiTroia(Broad Institute), Emily Groopman(West Coast University), Joseph G. Gleeson(Children’s Institute), Jack Fu(Broad Institute), Mugdha Singh(Broad Institute), Samantha Baxter(Broad Institute), Sandra Donkervoort(Government of the United States of America), Samantha L. Kirkham(Boston Children's Hospital), Ikeoluwa Osei‐Owusu(MACOM (United States)), Eleina England(Broad Institute), Emanuela Argilli(University of California, San Francisco), Katherine R. Chao(Broad Institute), Yulia Mostovoy(Broad Institute), Lynn Pais(MACOM (United States)), Eric A. Pierce(Broad Institute), Jill A. Madden(Boston Children's Hospital), Tiong Yang Tan(Royal Children's Hospital), Vijay Ganesh(Stanford University), Moriel Singer‐Berk(MACOM (United States)), Ronen Schneider(MACOM (United States)), Julia K. Goodrich(Broad Institute), Alan H. Beggs(Boston Children's Hospital), Carsten G. Bönnemann(National Institute of Neurological Disorders and Stroke), Kiran Garimella(Broad Institute), Steve S. Huang(Broad Institute), Susan M. White(The University of Melbourne), Zornitza Stark(Zoos Victoria), Lyndon Gallacher(The University of Queensland), Shirlee Shril(MACOM (United States)), Emily Evangelista(Broad Institute), Elliott H. Sherr(University of California, San Francisco), Emily Place(MACOM (United States)), Friedhelm Hildebrandt(Boston Children's Hospital), Emily O’Heir(MACOM (United States)), Alba Sanchis‐Juan(University Medical Center Groningen), Pankaj B. Agrawal(Post Graduate Institute of Medical Education and Research), Isaac Wong(University of Washington), Christina Austin‐Tse(Broad Institute), Diane D. Shao(Broad Institute), Kathryn Russell(Broad Institute), Hana Snow(MACOM (United States)), Casie A. Genetti(Boston Children's Hospital), Jennifer E. Neil(Boston Children's Hospital), Monica H. Wojcik(Broad Institute), Carolyn Le(University of California, San Francisco), Kinga M. Bujakowska(Massachusetts Eye and Ear Infirmary)
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