Article

Genomic loci susceptible to systematic sequencing bias in clinical whole genomes

2019-06-22

Abstract excerpt

Accurate massively parallel sequencing (MPS) of genetic variants is key to many areas of science and medicine, such as cataloguing 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...

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Literature Corpus work: 7306b68e-32db-5569-bee4-566407958579
DOI: 10.1101/679423

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