Article
Improving population scale statistical phasing with whole-genome sequencing data.
PLoS genetics - 1 Jul 2024
Wertenbroek Rick, Hofmeister Robin J, Xenarios Ioannis, Thoma Yann, Delaneau Olivier
Abstract excerpt
Haplotype estimation, or phasing, has gained significant traction in large-scale projects due to its valuable contributions to population genetics, variant analysis, and the creation of reference panels for imputation and phasing of new samples. To scale with the growing number of samples, haplotype estimation methods designed for population scale rely on highly optimized statistical models to phase genotype...
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