Evaluation of CNV detection tools for NGS panel data in genetic diagnostics

Although germline copy-number variants (CNVs) are the genetic cause of multiple hereditary diseases, detecting them from targeted next-generation sequencing data (NGS) remains a challenge. Existing tools perform well for large CNVs but struggle with single and multi-exon alterations. The aim of this...

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Detalles Bibliográficos
Autores principales: Moreno-Cabrera, José Marcos, del Valle, Jesús, Castellanos, Elisabeth, Feliubadaló, Lidia, Pineda, Marta, Brunet, Joan, Serra, Eduard, Capellà, Gabriel, Lázaro, Conxi, Gel, Bernat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784926/
https://www.ncbi.nlm.nih.gov/pubmed/32561899
http://dx.doi.org/10.1038/s41431-020-0675-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784926/
https://www.ncbi.nlm.nih.gov/pubmed/32561899
http://dx.doi.org/10.1038/s41431-020-0675-z

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