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

npj Genomic Medicine

Volumn 3, Issue 1, 2018, Pages

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

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e BOSTON CHILDREN S HOSPITAL   (United States)

^f DANA FARBER CANCER INSTITUTE   (United States)

^g WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

^j UNIVERSITY OF MANCHESTER   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CLINICIAN; CROWDSOURCING; DATA ANALYSIS; GENE; GENE SEQUENCE; GENETIC DISORDER; HUMAN; INFORMED CONSENT; MEDICAL EDUCATION; MENDELIAN DISEASE; PRIORITY JOURNAL; REVIEW; WHOLE GENOME SEQUENCING; WORKFLOW;

EID: 85051632409     PISSN: None     EISSN: 20567944     Source Type: Journal    
DOI: 10.1038/s41525-018-0060-9     Document Type: Review

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