Clinical analysis of germline copy number variation in DMD using a non-conjugate hierarchical Bayesian model - Kozareva, Velina; Stroff, Clayton; Silver, Maxwell; Freidin, Jonathan F.; Delaney, Nigel F. (BMC medical genomics, 2018)
Keywords: Bayesian analysis; Bioinformatic and algorithmical studies; Bioinformatics; Biomedical and Life Sciences; Biomedicine; Carrier screening; Computer applications; Copy number; Copy number variation (CNV); DMD; Duchenne's muscular dystrophy; Dystrophin; Exome sequencing; Gene Expression; Genes; Genetic disorders; Genetic screening; Genomes; Genomics; Genotyping; Human Genetics; Logit-normal distribution; Microarrays; Muscular dystrophy; Mutation; Next-generation sequencing; Normal distribution; Pipelines; Technical Advance; Logistic normal distribution; Copy number variation (CNV); Muscular dystrophy; Exome sequencing; Logit-normal distribution; Carrier screening; DMD