Article
Genotype error biases trio-based estimates of haplotype phase accuracy.
American journal of human genetics - 2 Jun 2022
Browning Brian L, Browning Sharon R
Abstract excerpt
Haplotypes can be estimated from unphased genotype data via statistical methods. When parent-offspring trios are available for inferring the true phase from Mendelian inheritance rules, the accuracy of statistical phasing is usually measured by the switch error rate, which is the proportion of pairs of consecutive heterozygotes that are incorrectly phased. We present a method for estimating the genotype error...
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