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

Methods in molecular biology (Clifton, N.J.)(2022)

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摘要
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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关键词
Allele,Amplicon,Annotation,Association,Bioconda,Fisher,InDel,NAFLD,SNV,Sequencing,Short-read,Variant calling
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