EAGLE: Explicit Alternative Genome Likelihood Evaluator.

ABSTRACT: BACKGROUND:Reliable detection of genome variations, especially insertions and deletions (indels), from single sample DNA sequencing data remains challenging, partially due to the inherent uncertainty involved in aligning sequencing reads to the reference genome. In practice a variety of ad hoc quality filtering methods are employed to produce more reliable lists of putative variants, but the resulting lists typically still include numerous false positives. Thus it would be desirable to be able to rigorously evaluate the degree to which each putative variant is supported by the data. Unfortunately, users who wish to do this, e.g. for the purpose of prioritizing validation experiments, have been faced with limited options. RESULTS:Here we present EAGLE, a method for evaluating the degree to

SUBMITTER: Kuo T 

PROVIDER: S-EPMC5918433 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature