An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery

Author:

Haghighi Alireza, ,Krier Joel B.,Toth-Petroczy Agnes,Cassa Christopher A.,Frank Natasha Y.,Carmichael Nikkola,Fieg Elizabeth,Bjonnes Andrew,Mohanty Anwoy,Briere Lauren C.,Lincoln Sharyn,Lucia Stephanie,Gupta Vandana A.,Söylemez Onuralp,Sutti Sheila,Kooshesh Kameron,Qiu Haiyan,Fay Christopher J.,Perroni Victoria,Valerius Jamie,Hanna Meredith,Frank Alexander,Ouahed Jodie,Snapper Scott B.,Pantazi Angeliki,Chopra Sameer S.,Leshchiner Ignaty,Stitziel Nathan O.,Feldweg Anna,Mannstadt Michael,Loscalzo Joseph,Sweetser David A.,Liao Eric,Stoler Joan M.,Nowak Catherine B.,Sanchez-Lara Pedro A.,Klein Ophir D.ORCID,Perry Hazel,Patsopoulos Nikolaos A.,Raychaudhuri Soumya,Goessling Wolfram,Green Robert C.,Seidman Christine E.,MacRae Calum A.,Sunyaev Shamil R.ORCID,Maas Richard L.,Vuzman Dana

Funder

Brigham Research Institute (BRI) (Director’s Transformative Award) and the National Institutes of Health (grants R01-GM078598-05, U01-DE024443-01 and U01-HG007690-01)

U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI)

U.S. Department of Health & Human Services | NIH | National Institute of Dental and Craniofacial Research (NIDCR)

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics,Molecular Biology

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