VAAST 2.0: Improved variant classification and disease-gene identification using a conservation-controlled amino acid substitution matrix

Genetic Epidemiology

Volumn 37, Issue 6, 2013, Pages 622-634

  Hu, Hao ^a   Huff, Chad D ^a   Moore, Barry ^b   Flygare, Steven ^b   Reese, Martin G ^c   Yandell, Mark ^b  

^a UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c Omicia Inc   (United States)

Author keywords

Aggregative association test; Complex disease; Disease gene finder; Rare Mendelian disease; Variant classifier

Indexed keywords

ACCURACY; ALGORITHM; AMINO ACID SUBSTITUTION; ARTICLE; BREAST CANCER; CROHN DISEASE; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC VARIABILITY; HUMAN GENOME; HYPERTRIGLYCERIDEMIA; INFORMATION PROCESSING; PERFORMANCE; VARIANT ANNOTATION ANALYSIS AND SEARCH TOOL;

AGGREGATIVE ASSOCIATION TEST; COMPLEX DISEASE; DISEASE-GENE FINDER; RARE MENDELIAN DISEASE; VARIANT CLASSIFIER;

ALGORITHMS; AMINO ACID SUBSTITUTION; BREAST NEOPLASMS; CASE-CONTROL STUDIES; CHECKPOINT KINASE 2; CROHN DISEASE; DATABASES, FACTUAL; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; HYPERTRIGLYCERIDEMIA; LIPOPROTEIN LIPASE; NOD2 SIGNALING ADAPTOR PROTEIN; PHYLOGENY; SAMPLE SIZE; SOFTWARE;

EID: 84881609951     PISSN: 07410395     EISSN: 10982272     Source Type: Journal    
DOI: 10.1002/gepi.21743     Document Type: Article

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