CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants

Human Mutation

Volumn 38, Issue 9, 2017, Pages 1169-1181

  Pal, Lipika R ^a   Kundu, Kunal ^a,b   Yin, Yizhou ^a,b   Moult, John ^a,c  

^a UNIVERSITY OF MARYLAND   (United States)

^b UNIVERSITY OF MARYLAND   (United States)

^c University of Maryland   (United States)

Author keywords

CAGI; Complete Genomics data; diagnostic variants; Human Phenotype Ontology (HPO); pediatric rare diseases; whole genome sequencing data

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; FEMALE; FOLLOW UP; GENE FREQUENCY; GENETIC VARIABILITY; GENETIC VARIATION; GENOME; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN STABILITY; PROTEIN STRUCTURE; RARE DISEASE; SANGER SEQUENCING; WORKFLOW; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETICS; GENOMICS; PROCEDURES; SOFTWARE;

CHILD; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOMICS; HUMANS; RARE DISEASES; SEQUENCE ANALYSIS, DNA; SOFTWARE;

EID: 85021378137     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23257     Document Type: Article

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