Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes - Johnston, Jennifer J.; Rubinstein, Wendy S.; Facio, Flavia M.; Ng, David; Singh, Larry N.; Teer, Jamie K.; Mullikin, James C.; Biesecker, Leslie G. (American journal of human genetics, 2012)
Keywords: Aged; Algorithms; Atherosclerosis; Atherosclerosis - genetics; Biological and medical sciences; Cancer; Exome; Female; Fundamental and applied biological sciences. Psychology; Genes; Genetic diversity; Genetic Predisposition to Disease; Genetic research; Genetic Variation; Genetics of eukaryotes. Biological and molecular evolution; Genotype & phenotype; Humans; Incidental Findings; Male; Medical genetics; Medical sciences; Middle Aged; Molecular and cellular biology; Mutation; Neoplasms - genetics; Pedigree; Penetrance; Sequence Analysis, DNA; Human; Secondary; Nucleotide sequence; Malignant tumor; Medical screening; Variant; Screening; Sensitivity; Gene penetrance; Genetics; Mutation; Sequencing; Cancer