Benchmarking germline CNV calling tools from exome sequencing data

Benchmarking germline CNV calling tools from exome sequencing data

Abstract Whole-exome sequencing is an attractive alternative to microarray analysis because of the low cost and potential ability to detect copy number variations (CNV) of various sizes (from 1–2 exons to several Mb). Previous comparison of the most popular CNV calling tools showed a high portion of...

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Bibliographic Details
Main Authors: Veronika Gordeeva, Elena Sharova, Konstantin Babalyan, Rinat Sultanov, Vadim M. Govorun, Georgij Arapidi
Format: Article
Language:English
Published: Nature Publishing Group 2021-07-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-021-93878-2

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https://doi.org/10.1038/s41598-021-93878-2

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