Article
PhaseME: Automatic rapid assessment of phasing quality and phasing improvement.
GigaScience - 1 Jul 2020
Majidian Sina, Sedlazeck Fritz J
Abstract excerpt
BACKGROUND: The detection of which mutations are occurring on the same DNA molecule is essential to predict their consequences. This can be achieved by phasing the genomic variations. Nevertheless, state-of-the-art haplotype phasing is currently a black box in which the accuracy and quality of the reconstructed haplotypes are hard to assess. FINDINGS: Here we present PhaseME, a versatile method to provide...
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