Article
ROHMM-A flexible hidden Markov model framework to detect runs of homozygosity from genotyping data.
Human mutation - 1 Feb 2022
Çelik Gökalp, Tuncalı Timur
Abstract excerpt
Runs of long homozygous (ROH) stretches are considered to be the result of consanguinity and usually contain recessive deleterious disease-causing mutations. Several algorithms have been developed to detect ROHs. Here, we developed a simple alternative strategy by examining X chromosome non-pseudoautosomal region to detect the ROHs from next-generation sequencing data utilizing the genotype probabilities and the...
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