Article

<i>AutScore</i> – An integrative scoring approach for prioritization of ultra-rare autism spectrum disorder candidate variants from whole exome sequencing data

2024-01-25

Abstract excerpt

<h4>Background</h4> Discerning clinically relevant ASD candidate variants from whole-exome sequencing (WES) data is complex, time-consuming, and labor-intensive. To this end, we developed AutScore , an integrative prioritization algorithm of ASD candidate variants from WES data, and assessed its performance to detect clinically relevant variants. <h4>Methods</h4> We studied WES data from 581 ASD probands, and...

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Literature Corpus work: 1496b4a0-3b49-577c-8eb1-a19434213256
DOI: 10.1101/2024.01.24.24301544

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