VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants

Next-generation sequencing (NGS) technologies generate thousands to millions of genetic variants per sample. Identification of potential disease-causal variants is labor intensive as it relies on filtering using various annotation metrics and consideration of multiple pathogenicity prediction scores...

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Detalles Bibliográficos
Autores principales: Ip, Eddie, Chapman, Gavin, Winlaw, David, Dunwoodie, Sally L., Giannoulatou, Eleni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Application Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056850/
https://www.ncbi.nlm.nih.gov/pubmed/31765830
http://dx.doi.org/10.1016/j.gpb.2019.11.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056850/
https://www.ncbi.nlm.nih.gov/pubmed/31765830
http://dx.doi.org/10.1016/j.gpb.2019.11.001

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