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

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

Copy-number variations (CNVs) have important clinical implications for several diseases and cancers. Relevant CNVs are hard to detect because common structural variations define large parts of the human genome. CNV calling from short-read sequencing would allow single protocol full genomic profiling...

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Bibliographic Details
Main Authors: Migle Gabrielaite, Mathias Husted Torp, Malthe Sebro Rasmussen, Sergio Andreu-Sánchez, Filipe Garrett Vieira, Christina Bligaard Pedersen, Savvas Kinalis, Majbritt Busk Madsen, Miyako Kodama, Gül Sude Demircan, Arman Simonyan, Christina Westmose Yde, Lars Rønn Olsen, Rasmus L. Marvig, Olga Østrup, Maria Rossing, Finn Cilius Nielsen, Ole Winther, Frederik Otzen Bagger
Format: Article
Language:English
Published: MDPI AG 2021-12-01
Series:Cancers
Subjects:
copy-number variation (CNV)
whole genome sequencing (WGS)
whole exome sequencing (WES)
benchmark
bioinformatics
structural variant
Online Access:https://www.mdpi.com/2072-6694/13/24/6283

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https://www.mdpi.com/2072-6694/13/24/6283

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