Estimating error models for whole genome sequencing using mixtures of Dirichlet-multinomial distributions

STEVEN HUNG-HSI WUSchwartz, R.SR.SSchwartzWinter, D.JD.JWinterConrad, D.FD.FConradCartwright, R.A.R.A.Cartwright2021-08-182021-08-1820171367-48031460-2059https://scholars.lib.ntu.edu.tw/handle/123456789/578168Accurate identification of genotypes is an essential part of the analysis of genomic data, including in identification of sequence polymorphisms, linking mutations with disease and determining mutation rates. Biological and technical processes that adversely affect genotyping include copy-number-variation, paralogous sequences, library preparation, sequencing error and reference-mapping biases, among others.enEstimating error models for whole genome sequencing using mixtures of Dirichlet-multinomial distributionsjournal article10.1093/bioinformatics/btx133283343732-s2.0-85026346784http://dx.doi.org/10.1093/bioinformatics/btx13398069952