DeepSNVMiner: a sequence analysis tool to detect emergent, rare mutations in subsets of cell populations.

ABSTRACT: Background. Massively parallel sequencing technology is being used to sequence highly diverse populations of DNA such as that derived from heterogeneous cell mixtures containing both wild-type and disease-related states. At the core of such molecule tagging techniques is the tagging and identification of sequence reads derived from individual input DNA molecules, which must be first computationally disambiguated to generate read groups sharing common sequence tags, with each read group representing a single input DNA molecule. This disambiguation typically generates huge numbers of reads groups, each of which requires additional variant detection analysis steps to be run specific to each read group, thus representing a significant computational challenge. While sequencing technologies for

SUBMITTER: Andrews TD 

PROVIDER: S-EPMC4888318 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature