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Article

VariantscanR: an R-package as a clinical tool for variant filtering of known phenotype-associated variants in domestic animals.

BMC bioinformatics - 1 Aug 2023

Boeykens Fréderique, Bhatti Sofie F M, Peelman Luc, Broeckx Bart J G

Abstract excerpt

BACKGROUND: Since the introduction of next-generation sequencing (NGS) techniques, whole-exome sequencing (WES) and whole-genome sequencing (WGS) have not only revolutionized research, but also diagnostics. The gradual switch from single gene testing to WES and WGS required a different set of skills, given the amount and type of data generated, while the demand for standardization remained. However, most of the...

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PMID: 37528412
DOI: 10.1186/s12859-023-05426-6
PMCID: PMC10394849

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