Article

CNVPipe: An enhanced pipeline for accurate analysis of copy number variation from whole-genome sequencing

2025-05-23

Abstract excerpt

Copy number variations (CNVs) are critical contributors to the genetic architecture of complex diseases, yet many existing pipelines for whole-genome sequencing (WGS) data exhibit persistently high false discovery rates (FDR). Here, we introduce CNVPipe, an enhanced workflow that integrates widely used CNV-calling tools with a novel machine-learning framework to achieve lower FDR and higher sensitivity. CNVPipe al...

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Literature Corpus work: ea53b693-4439-53d1-baf3-c08c137e84c9
DOI: 10.1101/2025.05.18.654763

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