Clinical analysis of germline copy number variation in DMD using a non-conjugate hierarchical Bayesian model.

ABSTRACT:

Background

Detection of copy number variants (CNVs) is an important aspect of clinical testing for several disorders, including Duchenne muscular dystrophy, and is often performed using multiplex ligation-dependent probe amplification (MLPA). However, since many genetic carrier screens depend instead on next-generation sequencing (NGS) for wider discovery of small variants, they often do not include CNV analysis. Moreover, most computational techniques developed to detect CNVs from exome sequencing data are not suitable for carrier screening, as they require matched normals, very large cohorts, or extensive gene panels.

Methods

We present a computational software package, geneCNV ( http://github.com/vkozareva/geneCNV ), which can identify exon-level CNVs using exome sequenci

SUBMITTER: Kozareva V 

PROVIDER: S-EPMC6195989 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature