Journal article

Evaluation of consensus strategies for haplotype phasing.

Ziad Al Bkhetan, Gursharan Chana, Kotagiri Ramamohanarao, Karin Verspoor, Benjamin Goudey

Briefings in Bioinformatics | Published : 2020

Abstract

Haplotype phasing is a critical step for many genetic applications but incorrect estimates of phase can negatively impact downstream analyses. One proposed strategy to improve phasing accuracy is to combine multiple independent phasing estimates to overcome the limitations of any individual estimate. However, such a strategy is yet to be thoroughly explored. This study provides a comprehensive evaluation of consensus strategies for haplotype phasing. We explore the performance of different consensus paradigms, and the effect of specific constituent tools, across several datasets with different characteristics and their impact on the downstream task of genotype imputation. Based on the output..

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