Estimates of penetrance for recurrent pathogenic copy-number variations - Rosenfeld, Jill A.; Coe, Bradley P.; Eichler, Evan E.; Cuckle, Howard; Shaffer, Lisa G. (Genetics in medicine, 2013)
Keywords: 631/208/726/649/2157; 631/208/727/2000; 692/699; 692/700/1720; Algorithms; Bayes Theorem; Biomedical and Life Sciences; Biomedicine; Brief Report; Case-Control Studies; copy-number variation; DNA Copy Number Variations; Genetic counseling; Genetic Loci; Genetic Predisposition to Disease; genomic disorder; Genotype; Human Genetics; Humans; Laboratory Medicine; microarray; Models, Genetic; Penetrance; prenatal diagnosis; microarray; prenatal diagnosis; genomic disorder; copy-number variation; penetrance