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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2019
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| Materias: | |
| 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 |