CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools

SUMMARY: Germline copy-number variants (CNVs) are relevant mutations for multiple genetics fields, such as the study of hereditary diseases. However, available benchmarks show that all next-generation sequencing (NGS) CNV calling tools produce false positives. We developed CNVfilteR, an R package th...

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Detalles Bibliográficos
Autores principales: Moreno-Cabrera, José Marcos, del Valle, Jesús, Castellanos, Elisabeth, Feliubadaló, Lidia, Pineda, Marta, Serra, Eduard, Capellá, Gabriel, Lázaro, Conxi, Gel, Bernat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Applications Notes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9502136/
https://www.ncbi.nlm.nih.gov/pubmed/33983414
http://dx.doi.org/10.1093/bioinformatics/btab356

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9502136/
https://www.ncbi.nlm.nih.gov/pubmed/33983414
http://dx.doi.org/10.1093/bioinformatics/btab356

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