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

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

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 a...

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Bibliographic Details
Main Authors: Sina Majidian, Daniel Paiva Agustinho, Chen-Shan Chin, Fritz J. Sedlazeck, Medhat Mahmoud
Format: Article
Language:English
Published: BMC 2023-10-01
Series:Genome Biology
Subjects:
Genetic variation
SNPs
Indels
Structural variant
Benchmark datasets
Medical genes
Online Access:https://doi.org/10.1186/s13059-023-03061-1

Internet

https://doi.org/10.1186/s13059-023-03061-1

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