A simplified method for segregation analysis (SISA) to determine penetrance and expression of a genetic variant in a family

Human Mutation

Volumn 32, Issue 5, 2011, Pages 568-571

  Møller, Pål ^a   Clark, Neal ^a   Mæhle, Lovise ^a  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

Expression; Inherited; Penetrance; Segregation analysis; VUS

Indexed keywords

ARTICLE; CANCER SUSCEPTIBILITY; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE CARRIER; FAMILY; FEMALE; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; MALE; PENETRANCE; PRIORITY JOURNAL; SEGREGATION ANALYSIS;

COMPUTATIONAL BIOLOGY; FAMILY; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; METHODS; MODELS, THEORETICAL; PENETRANCE;

EID: 79955017141     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21441     Document Type: Article

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