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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Publicat a:Eur J Hum Genet
Autors principals: Moreno-Cabrera, José Marcos, del Valle, Jesús, Castellanos, Elisabeth, Feliubadaló, Lidia, Pineda, Marta, Brunet, Joan, Serra, Eduard, Capellà, Gabriel, Lázaro, Conxi, Gel, Bernat
Format: Artigo
Idioma:Inglês
Publicat: Springer International Publishing 2020
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7784926/
https://ncbi.nlm.nih.gov/pubmed/32561899
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0675-z
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