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Exploring effective approaches for haplotype block phasing.

Ziad Al BkhetanJustin ZobelAdam KowalczykKarin VerspoorBenjamin Goudey
Published in: BMC bioinformatics (2019)
The choice of phasing and block determination algorithms and their interaction impacts the accuracy of phased haplotype blocks. This work provides guidance and evidence for the different design choices needed for analyses using haplotype blocks. The study highlights a number of issues that may have limited the replicability of previous haplotype analysis.
Keyphrases
  • machine learning
  • deep learning