Article

Comparison of three bioinformatics tools in the detection of ASD candidate variants from whole exome sequencing data

2023-04-26

Abstract excerpt

<h4>Background</h4> Autism spectrum disorder (ASD) is a heterogenous multifactorial neurodevelopmental condition with a significant genetic susceptibility component. Thus, identifying genetic variations associated with ASD is a complex task. Whole-exome sequencing (WES) is an effective approach for detecting extremely rare protein-coding single-nucleotide variants (SNVs) and short insertions/deletions (INDELs). Ho...

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Literature Corpus work: fe714137-3e9e-5fc9-8b58-757a9beb1c1e
DOI: 10.1101/2023.04.23.23288995

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