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

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

Abstract 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 o...

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Bibliographic Details
Main Authors: Fréderique Boeykens, Sofie F. M. Bhatti, Luc Peelman, Bart J. G. Broeckx
Format: Article
Language:English
Published: BMC 2023-08-01
Series:BMC Bioinformatics
Subjects:
Sequencing
Variant filtering
Precision medicine
Clinical tool
WES
WGS
Online Access:https://doi.org/10.1186/s12859-023-05426-6

Internet

https://doi.org/10.1186/s12859-023-05426-6

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