Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

Genetics in Medicine

Volumn 18, Issue 6, 2016, Pages 608-617

  Bone, William P ^a   Washington, Nicole L ^b   Buske, Orion J ^c,d   Adams, David R ^a,e   Davis, Joie ^a   Draper, David ^a   Flynn, Elise D ^a   Girdea, Marta ^c,d   Godfrey, Rena ^a   Golas, Gretchen ^a   Groden, Catherine ^a   Jacobsen, Julius ^f   Köhler, Sebastian ^g   Lee, Elizabeth M J ^a   Links, Amanda E ^a   Markello, Thomas C ^a   Mungall, Christopher J ^b   Nehrebecky, Michele ^a   Robinson, Peter N ^g   Sincan, Murat ^a   Soldatos, Ariane G ^a   Tifft, Cynthia J ^a,e   Toro, Camilo ^a   Trang, Heather ^c,d   Valkanas, Elise ^a   Vasilevsky, Nicole ^h   Wahl, Colleen ^a   Wolfe, Lynne A ^a   Boerkoel, Cornelius F ^a   Brudno, Michael ^c,d   Haendel, Melissa A ^h   Gahl, William A ^a,e   Smedley, Damian ^f   more..

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

^e NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^f WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^g CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^h OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

exome sequencing; model organisms; phenotype; semantic comparison; undiagnosed diseases

Indexed keywords

N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2B; PANTOTHENATE KINASE 2; STROMAL INTERACTION MOLECULE 1;

ARTICLE; CLINICAL EVALUATION; COHORT ANALYSIS; DNA SEQUENCE; EXOME; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIATION; HUMAN; HUMAN GENOME; INHERITANCE; NONHUMAN; ONTOLOGY; PHENOTYPE; PROTEIN PROTEIN INTERACTION; QUALITY CONTROL; WALKING AID; ANIMAL; BIOLOGY; DISEASE MODEL; GENETIC ASSOCIATION STUDY; GENETIC DATABASE; GENETICS; MOUSE; NATIONAL HEALTH ORGANIZATION; PATHOPHYSIOLOGY; PATIENT; PROCEDURES; RARE DISEASE; UNITED STATES; WHOLE EXOME SEQUENCING; ZEBRA FISH;

ANIMALS; COMPUTATIONAL BIOLOGY; DATABASES, GENETIC; DISEASE MODELS, ANIMAL; EXOME; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; HUMANS; MICE; NATIONAL INSTITUTES OF HEALTH (U.S.); PATIENTS; PHENOTYPE; RARE DISEASES; UNITED STATES; WHOLE EXOME SEQUENCING; ZEBRAFISH;

EID: 84975063087     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.137     Document Type: Article

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