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...

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Main Authors: Durtschi, Jacob, Margraf, Rebecca L, Coonrod, Emily M, Mallempati, Kalyan C, Voelkerding, Karl V
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2013
Assuntos:
Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3849648/
https://ncbi.nlm.nih.gov/pubmed/24266885
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2105-14-S13-S2
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