ECOLE: Learning to call copy number variants on whole exome sequencing data.

ABSTRACT: Copy number variants (CNV) are shown to contribute to the etiology of several genetic disorders. Accurate detection of CNVs on whole exome sequencing (WES) data has been a long sought-after goal for use in clinics. This was not possible despite recent improvements in performance because algorithms mostly suffer from low precision and even lower recall on expert-curated gold standard call sets. Here, we present a deep learning-based somatic and germline CNV caller for WES data, named ECOLE. Based on a variant of the transformer architecture, the model learns to call CNVs per exon, using high-confidence calls made on matched WGS samples. We further train and fine-tune the model with a small set of expert calls via transfer learning. We show that ECOLE achieves high performance on human exper

SUBMITTER: Mandiracioglu B 

PROVIDER: S-EPMC10762021 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature