Genomic loci susceptible to systematic sequencing bias in clinical whole genomes.

ABSTRACT: Accurate massively parallel sequencing (MPS) of genetic variants is key to many areas of science and medicine, such as cataloging population genetic variation and diagnosing genetic diseases. Certain genomic positions can be prone to higher rates of systematic sequencing and alignment bias that limit accuracy, resulting in false positive variant calls. Current standard practices to differentiate between loci that can and cannot be sequenced with high confidence utilize consensus between different sequencing methods as a proxy for sequencing confidence. These practices have significant limitations, and alternative methods are required to overcome them. We have developed a novel statistical method based on summarizing sequenced reads from whole-genome clinical samples and cataloging them in

SUBMITTER: Freeman TM 

PROVIDER: S-EPMC7111519 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature