Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing
Alba Sanchis-Juan(Broad Institute), Ikeoluwa Osei-Owusu(Broad Institute), Eren Shin(Broad Institute), Brandy McNulty(University of California, Santa Cruz), Philip M. Boone(Broad Institute), Sandra T. Cooper(Children's Medical Research Institute), Akanksha Khorgade(Broad Institute), Samantha Baxter(Broad Institute), Emanuela Argilli(University of California, San Francisco), Shloka Negi(University of California, Santa Cruz), Yulia Mostovoy(Broad Institute), Catherine A. Brownstein(Boston Children's Hospital), Jill A. Madden(Boston Children's Hospital), Katrina M. Bell(Murdoch Children's Research Institute), Alan H. Beggs(Boston Children's Hospital), Olfa Messaoud(Broad Institute), Carsten G. Bönnemann(National Institute of Neurological Disorders and Stroke), Elizabeth C. Engle(Boston Children's Hospital), Ben Weisburd(MACOM (United States)), Julie A. Jurgens(Boston Children's Hospital), Lyndon Gallacher(The University of Queensland), Brenda J. Barry(Boston Children's Hospital), Arthur S. Lee(Broad Institute), Hang Su(Broad Institute), Emily O’Heir(MACOM (United States)), Xuefang Zhao(Broad Institute), Rachita Yadav(Massachusetts General Hospital), Sarah L. Stenton(Broad Institute), Robert B. Hufnagel(National Institutes of Health), Casie A. Genetti(Boston Children's Hospital), Vijay S Ganesh(Broad Institute), Benjamin Blankenmeister(University of Washington), Kirsten Allan(Victorian Clinical Genetics Services), Jialan Ma(Broad Institute), Elizabeth Carbonell(Broad Institute), Christina Austin-Tse(Broad Institute), Stacey Hall(Broad Institute), Stephanie DiTroia(Broad Institute), Gabrielle Lemire(Broad Institute), Alex Yenkin(Broad Institute), Friedhelm Hildebrandt(Boston Children's Hospital), Emily Liau(Broad Institute), Bin Guan(National Eye Institute), Sandra Donkervoort(National Institute of Neurological Disorders and Stroke), Melanie C O'Leary(Broad Institute), Joseph G Gleeson(Rady Children's Hospital-San Diego), Brian Mangilog(Broad Institute), Kinga M. Bujakowska(Massachusetts Eye and Ear Infirmary), Nehir E Kurtas(Broad Institute), Laura Covill(Karolinska Institutet)
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