In JMF47/DnMD: Detection of de novo deletion in targeted sequencing trios

Overview

MDTS provides the necessary infrastructure to take raw bam files of targeted sequencing trios to produce de novo deletion calls of high sensitivity and low false positives. Our method benefits tremendously from pooling information from across many trios to determine regions of interest, normalize read-depth, and to filter candidate deletion signals.

To install please use install_github('jmf47/MDTS', ref="R-3.4", build_vignettes=TRUE).

To view the vignette after installing MDTS use vignette("mdts", package="MDTS").

JMF47/DnMD documentation built on May 31, 2019, 10:44 p.m.