Article

CN-RNN: a Deep Learning Framework for Copy Number Variation Detection with Exome Sequencing Data

2026-05-15

Abstract excerpt

Copy number variations (CNVs) are major structural genomic variants that contribute to a wide range of human diseases. Accurate detection of CNVs from whole-exome sequencing (WES) data has been a long-sought goal for clinical and population genetic studies. Despite recent progress, existing WES-based CNV callers still suffer from high false-positive rates and reduced recall for short-length variants, and current d...

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Literature Corpus work: 9d1e50c7-a433-57be-ae3e-d3c40da93d58
DOI: 10.64898/2026.05.13.724920

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