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Converting single nucleotide variants between genome builds: from cautionary tale to solution

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0 Published in 2021 at "Briefings in Bioinformatics"

DOI: 10.1093/bib/bbab069

Abstract: Abstract Next-generation sequencing studies are dependent on a high-quality reference genome for single nucleotide variant (SNV) calling. Although the two most recent builds of the human genome are widely used, position information is typically not… read more here.

Keywords: converting single; single nucleotide; genome builds; nucleotide variants ... See more keywords