2023
DOI: 10.1101/2023.04.23.23288995
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Comparison of three bioinformatics tools in the detection of ASD candidate variants from whole exome sequencing data

Abstract: Background 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). However, interpreting the functional and clinical consequences of these variants requires integrating multifaceted genomic information. Methods We co… Show more

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