Journal article

Evaluation of consensus strategies for haplotype phasing

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

Published : 2020


Motivation 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. As such a strategy is yet to be thoroughly explored, this study provides a comprehensive evaluation of consensus strategies for haplotype phasing, exploring their performance, along with their constituent tools, across a range of real and simulated datasets with different data characteristics and on the downstream task of genotype imputation. Results Based on the outputs of existing p..

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