Article

Comparison of three variant callers for human whole genome sequencing

2018-11-05

Abstract excerpt

<h4>ABSTRACT</h4> Testing of patients with genetics-related disorders is in progress of shifting from single gene assays to gene panel sequencing, whole-exome sequencing (WES) and whole-genome sequencing (WGS). Since WGS is unquestionably becoming a new foundation for molecular analyses, we decided to compare three currently used tools for variant calling of human whole genome sequencing data. We tested DeepVaria...

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Literature Corpus work: 21fd64f5-8e1b-5180-acba-cd42444a1617
DOI: 10.1101/461798

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