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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Genomics Proteomics Bioinformatics
Egile Nagusiak: Ip, Eddie, Chapman, Gavin, Winlaw, David, Dunwoodie, Sally L., Giannoulatou, Eleni
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2019
Gaiak:
Application Note
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7056850/
https://ncbi.nlm.nih.gov/pubmed/31765830
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gpb.2019.11.001
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