PhaseME: Automatic rapid assessment of phasing quality and phasing improvement.

ABSTRACT:

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 insights into and improvement of sample phasing results based on linkage data. We showcase the performance and the importance of PhaseME by comparing phasing information obtained from Pacific Biosciences including both continuous long reads and high-quality consensus reads, Oxford Nanopore Technologies, 10x Genomics, and Illumina sequencing technologies. We found that 10x Gen

SUBMITTER: Majidian S 

PROVIDER: S-EPMC7379178 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature