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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Autores principales: Veronika Gordeeva, Elena Sharova, Konstantin Babalyan, Rinat Sultanov, Vadim M. Govorun, Georgij Arapidi
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/74053e2546e143b9894809dc6ad427ac
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