Computational Pipeline for Next-Generation Sequencing (NGS) Studies in Genetics of NASH

Abstract

High-throughput sequencing (HTS) technologies have contributed to expand current knowledge of the biology of complex diseases, including nonalcoholic fatty liver disease (NAFLD). Genome-wide association studies, whole exome sequencing, and sequencing of entire genes are used to identify variants and/or mutations that predispose to the disease pathogenesis. Here, we present a tutorial that may guide readers to manage high volume of genetics data in the context of Next-Generation Sequencing (NGS) studies.

Keywords: Allele; Amplicon; Annotation; Association; Bioconda; Fisher; InDel; NAFLD; SNV; Sequencing; Short-read; Variant calling.