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

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...

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Detalles Bibliográficos
Autores principales: Boeykens, Fréderique, Bhatti, Sofie F. M., Peelman, Luc, Broeckx, Bart J. G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10394849/
https://www.ncbi.nlm.nih.gov/pubmed/37528412
http://dx.doi.org/10.1186/s12859-023-05426-6

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