Genomic variant benchmark: if you cannot measure it, you cannot improve it.

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State: Public
Version: Final published version
License: CC BY 4.0
Serval ID
serval:BIB_BFFAA42506DB
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Genomic variant benchmark: if you cannot measure it, you cannot improve it.
Journal
Genome biology
Author(s)
Majidian S., Agustinho D.P., Chin C.S., Sedlazeck F.J., Mahmoud M.
ISSN
1474-760X (Electronic)
ISSN-L
1474-7596
Publication state
Published
Issued date
05/10/2023
Peer-reviewed
Oui
Volume
24
Number
1
Pages
221
Language
english
Notes
Publication types: Journal Article ; Review
Publication Status: epublish
Abstract
Genomic benchmark datasets are essential to driving the field of genomics and bioinformatics. They provide a snapshot of the performances of sequencing technologies and analytical methods and highlight future challenges. However, they depend on sequencing technology, reference genome, and available benchmarking methods. Thus, creating a genomic benchmark dataset is laborious and highly challenging, often involving multiple sequencing technologies, different variant calling tools, and laborious manual curation. In this review, we discuss the available benchmark datasets and their utility. Additionally, we focus on the most recent benchmark of genes with medical relevance and challenging genomic complexity.
Keywords
Benchmark datasets, Genetic variation, Indels, Medical genes, SNPs, Sequencing technology, Structural variant
Pubmed
Open Access
Yes
Create date
09/10/2023 13:36
Last modification date
25/01/2024 8:43
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