Article
PhredEM: a phred-score-informed genotype-calling approach for next-generation sequencing studies.
Genetic epidemiology - 1 Jul 2017
Liao Peizhou, Satten Glen A, Hu Yi-Juan
Abstract excerpt
A fundamental challenge in analyzing next-generation sequencing (NGS) data is to determine an individual's genotype accurately, as the accuracy of the inferred genotype is essential to downstream analyses. Correctly estimating the base-calling error rate is critical to accurate genotype calls. Phred scores that accompany each call can be used to decide which calls are reliable. Some genotype callers, such as GATK...
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