BioinformaticsCancersPeer-reviewed
A comparison of tools for copy-number variation detection in germline whole exome and whole genome sequencing data
Miglė Gabrielaitė, Mathias Husted Torp, Malthe Sebro Rasmussen…·Frederik Otzen Bagger
The paper benchmarks CNV detection tools on WGS and WES data using clinical standards and reference samples, finding that combining multiple tools improves recall but precision remains a challenge.
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