A framework for exhaustively mapping functional missense variants

Molecular Systems Biology

Volumn 13, Issue 12, 2017, Pages

  Weile, Jochen ^a,b,c   Sun, Song ^a,b,c,d   Cote, Atina G ^a,b   Knapp, Jennifer ^a,b   Verby, Marta ^a,b   Mellor, Joseph C ^b,e   Wu, Yingzhou ^a,b,c   Pons, Carles ^f   Wong, Cassandra ^a,b   van Lieshout, Natascha ^a   Yang, Fan ^a,b,c   Tasan, Murat ^a,b,c   Tan, Guihong ^b   Yang, Shan ^g   Fowler, Douglas M ^h   Nussbaum, Robert ^g   Bloom, Jesse D ⁱ   Vidal, Marc ^j,k   Hill, David E ^j   Aloy, Patrick ^f,l   Roth, Frederick P ^a,b,c,m   more..

^a MOUNT SINAI HOSPITAL   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d UPPSALA UNIVERSITY   (Sweden)

^e SeqWell Inc   (United States)

^f INSTITUTE FOR RESEARCH IN BIOMEDICINE   (Spain)

^g Invitae   (United States)

^h UNIVERSITY OF WASHINGTON   (United States)

ⁱ USA   (United States)

^j DANA FARBER CANCER INSTITUTE   (United States)

^k HARVARD MEDICAL SCHOOL   (United States)

^l INSTITUCIÓ CATALANA DE RECERCA I ESTUDIS AVANÇATS ICREA   (Spain)

^m CANADIAN INSTITUTE FOR ADVANCED RESEARCH   (Canada)

more..

Author keywords

complementation; deep mutational scanning; genotype phenotype; variants of uncertain significance

Indexed keywords

CALMODULIN; SUMO 1 PROTEIN; THIAMINE PYROPHOSPHOKINASE; UBIQUITIN CONJUGATING ENZYME; UBIQUITIN-CONJUGATING ENZYME UBC9;

ARTICLE; DEEP MUTATIONAL SCANNING; GENE; GENE FREQUENCY; HUMAN; MACHINE LEARNING; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; UBE21 GENE; DISEASES; DNA MUTATIONAL ANALYSIS; GENETICS; METABOLISM; PHYLOGENY; PROCEDURES; REPRODUCIBILITY;

CALMODULIN; DISEASE; DNA MUTATIONAL ANALYSIS; HUMANS; MACHINE LEARNING; MUTATION, MISSENSE; PHENOTYPE; PHYLOGENY; REPRODUCIBILITY OF RESULTS; SUMO-1 PROTEIN; UBIQUITIN-CONJUGATING ENZYMES;

EID: 85039053585     PISSN: None     EISSN: 17444292     Source Type: Journal    
DOI: 10.15252/msb.20177908     Document Type: Article

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