Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

Human Mutation

Volumn 37, Issue 3, 2016, Pages 231-234

  Campbell, Ian M ^a   Gambin, Tomasz ^a   Jhangiani, Shalini N ^a   Grove, Megan L ^b   Veeraraghavan, Narayanan ^a   Muzny, Donna M ^a   Shaw, Chad A ^a   Gibbs, Richard A ^a   Boerwinkle, Eric ^a,b   Yu, Fuli ^a   Lupski, James R ^a,c  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF TEXAS SCHOOL OF PUBLIC HEALTH   (United States)

^c TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

Human variation; Multiallelic; Paralogous sequence variant; Pathogenic variant; Single nucleotide variant

Indexed keywords

ALLELE; ARTICLE; EXOME; GENE FREQUENCY; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; HAPLOTYPE MAP; HUMAN; HUMAN GENOME; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; GENETICS;

ALLELES; EXOME; GENOME, HUMAN; HUMANS;

EID: 84957933302     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22944     Document Type: Article

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