Article

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

2022-11-17

Abstract excerpt

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...

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Literature Corpus work: 06c6b151-9655-51df-b70b-aecf4a78ee9a
DOI: 10.1101/2022.11.17.516880

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