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VarBin, a novel method for classifying true and false positive variants in NGS data
BACKGROUND: Variant discovery for rare genetic diseases using Illumina genome or exome sequencing involves screening of up to millions of variants to find only the one or few causative variant(s). Sequencing or alignment errors create "false positive" variants, which are often retained in...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3849648/ https://www.ncbi.nlm.nih.gov/pubmed/24266885 http://dx.doi.org/10.1186/1471-2105-14-S13-S2 |