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Genomic sequence characteristics and the empiric accuracy of short-read sequencing

2021-04-11

Abstract excerpt

<h4>Background</h4> Short-read whole genome sequencing (WGS) is a vital tool for clinical applications and basic research. Genetic divergence from the reference genome, repetitive sequences, and sequencing bias, reduce the performance of variant calling using short-read alignment, but the loss in recall and specificity has not been adequately characterized. For the clonal pathogen Mycobacterium tuberculosis (Mtb)...

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Literature Corpus work
54195d0a-8d86-5fb0-a4af-8f5ba339aa5d
DOI
10.1101/2021.04.08.438862
Open publication

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Genomic sequence characteristics and the empiric accuracy of short-read sequencingDOI 10.1101/2021.04.08.438862
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