A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data

SIMPLE SUMMARY: Copy-number variations (CNVs) have important clinical implications for several diseases and cancers. We reviewed 50 popular CNV calling tools and included 11 tools for benchmarking in a reference cohort encompassing 39 whole genome sequencing (WGS) samples paired current clinical sta...

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Detalles Bibliográficos
Autores principales: Gabrielaite, Migle, Torp, Mathias Husted, Rasmussen, Malthe Sebro, Andreu-Sánchez, Sergio, Vieira, Filipe Garrett, Pedersen, Christina Bligaard, Kinalis, Savvas, Madsen, Majbritt Busk, Kodama, Miyako, Demircan, Gül Sude, Simonyan, Arman, Yde, Christina Westmose, Olsen, Lars Rønn, Marvig, Rasmus L., Østrup, Olga, Rossing, Maria, Nielsen, Finn Cilius, Winther, Ole, Bagger, Frederik Otzen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8699073/
https://www.ncbi.nlm.nih.gov/pubmed/34944901
http://dx.doi.org/10.3390/cancers13246283

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8699073/
https://www.ncbi.nlm.nih.gov/pubmed/34944901
http://dx.doi.org/10.3390/cancers13246283

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