Open AccessPhaseME: Automatic rapid assessment of phasing quality and phasing improvement
Author(s) -
Sina Majidian,
Fritz J. Sedlazeck
Publication year - 2020
Publication title -
gigascience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.947
H-Index - 54
ISSN - 2047-217X
DOI - 10.1093/gigascience/giaa078
Subject(s) - phaser , computer science , correctness , data mining , nanopore sequencing , haplotype , data quality , algorithm , dna sequencing , biology , genetics , engineering , gene , metric (unit) , operations management , genotype , electrical engineering
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.