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Updated: Oct 2, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Computational Pipeline for Next-Generation Sequencing (NGS) Studies in Genetics of NASH
Adrian Salatino1,2, Silvia Sookoian3,4, Carlos J Pirola5,6
1School of Medicine, Institute of Medical Research A Lanari, University of Buenos Aires, Ciudad Autónoma de Buenos Aires, Argentina.
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.
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