Comparison of three variant callers for human whole genome sequencing.
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ABSTRACT:
SUBMITTER: Supernat A
PROVIDER: S-EPMC6294778 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
Publications
Comparison of three variant callers for human whole genome sequencing.
Supernat Anna A Vidarsson Oskar Valdimar OV Steen Vidar M VM Stokowy Tomasz T
Scientific reports 20181214 1
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 DeepVariant, a new TensorFlow machine learning-based variant caller, and compared this tool to GATK 4.0 and Spe ...[more]
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