wKGGSeq: A comprehensive strategy-based and disease-targeted online framework to facilitate exome sequencing studies of inherited disorders

Human Mutation

Volumn 36, Issue 5, 2015, Pages 496-503

  Li, Mulin Jun ^a,b   Deng, Jiaen ^a   Wang, Panwen ^a,b   Yang, Wanling ^a   Ho, Shu Leong ^a   Sham, Pak Chung ^a,c   Wang, Junwen ^a,b   Li, Miaoxin ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b UNIVERSITY OF HONG KONG   (China)

^c UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Exome sequencing; Mendelian disease; Quality control; Variant annotation; Variant prioritization

Indexed keywords

ARTICLE; CROHN DISEASE; CYSTIC FIBROSIS; EXOME; FAMILIAL CANCER; GENE MUTATION; GENOTYPE; HEARING IMPAIRMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITY; HIGH THROUGHPUT SEQUENCING; HOMOZYGOSITY; HUMAN; INHERITANCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPINOCEREBELLAR DEGENERATION; BIOLOGY; COMPUTER PROGRAM; GENETIC ASSOCIATION; GENETIC DATABASE; GENETIC DISEASES, INBORN; GENETICS; GENOMICS; INTERNET; MOLECULAR GENETICS; PROCEDURES; WEB BROWSER;

COMPUTATIONAL BIOLOGY; DATABASES, GENETIC; EXOME; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, INBORN; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTERNET; MOLECULAR SEQUENCE ANNOTATION; SOFTWARE; WEB BROWSER;

EID: 84928204559     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22766     Document Type: Article

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