Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

Monica H. Wojcik(Broad Institute), Casie A. Genetti(Boston Children's Hospital), Daniel G. MacArthur(Garvan Institute of Medical Research), Sander Pajusalu(MACOM (United States)), Wathone Win(MACOM (United States)), Karit Reinson(Tartu University Hospital), Emily Groopman(West Coast University), Joseph G. Gleeson(Children’s Institute), Maha S. Zaki(National Water Research Center), Alba Sanchis-Juan(NHS Blood and Transplant), Katrin Õunap(Tartu University Hospital), Volker Straub(Newcastle upon Tyne Hospitals NHS Foundation Trust), Rhett G. Marchant(The University of Sydney), Nigel G. Laing(Harry Perkins Institute of Medical Research), Ikeoluwa Osei‐Owusu(MACOM (United States)), Jordan Lerner‐Ellis(Ontario Institute for Cancer Research), Roula Ghaoui(Unknown), Lynn Pais(MACOM (United States)), Chantal F. Morel(MACOM (United States)), Gabrielle Lemire(Broad Institute), Eric A. Pierce(Broad Institute), Jill A. Madden(Boston Children's Hospital), Tiong Yang Tan(Royal Children's Hospital), Leigh B. Waddell(The University of Sydney), Jeffrey M. Verboon(MACOM (United States)), Melanie O’Leary(MACOM (United States)), Jasmine Lin(Boston Children's Hospital), Moriel Singer‐Berk(MACOM (United States)), Ronen Schneider(MACOM (United States)), Julia K. Goodrich(Broad Institute), Ben Weisburd(MACOM (United States)), Kaisa Teele Oja(MACOM (United States)), Shirlee Shril(MACOM (United States)), Ana Töpf(NIHR Newcastle Biomedical Research Centre), Alysia Kern Lovgren(Broad Institute), Eleanor G. Seaby(University of Southampton), Gianina Ravenscroft(Harry Perkins Institute of Medical Research), Emily Place(MACOM (United States)), Friedhelm Hildebrandt(Boston Children's Hospital), Emily O’Heir(MACOM (United States)), Mariel Wissman(Broad Institute), Volkan Okur(MACOM (United States)), Grace E. VanNoy(MACOM (United States)), Kathryn Russell(Broad Institute), Sarah L. Stenton(Broad Institute), S. White, Hana Snow(MACOM (United States)), Brian Mangilog(MACOM (United States)), Josh Silver(MACOM (United States)), Vijay G. Sankaran(Broad Institute)
medRxiv
August 13, 2023
Cited by 8


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