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WxS-QC - a quality control pipeline for human Whole-Genome and Whole Exome sequencing cohorts

2025-12-17

Abstract excerpt

<h4>Motivation</h4> Whole-exome (WES) and whole-genome (WGS) sequencing are rapidly becoming preferred methods for population-scale analysis of the human genetic landscape. However, there are currently no standardized quality control (QC) pipelines for human WES and WGS datasets. Moveover, there are no open datasets that can be used to test QC pipelines, because most projects (like 1000 genomes and gnomAD) publis...

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Literature Corpus work
cfca9e15-d5a1-5ebb-9166-f3dcf46df32e
DOI
10.64898/2025.12.15.694327
Open publication

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