Article

VariantKey: A Reversible Numerical Representation of Human Genetic Variants

2018-11-19

Abstract excerpt

<h4> A bstract </h4> Human genetic variants are usually represented by four values with variable length: chromosome, position, reference and alternate alleles. There is no guarantee that these components are represented in a consistent way across different data sources, and processing variant-based data can be inefficient because four different comparison operations are needed for each variant, three of which a...

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Literature Corpus work: 25042dd2-f9c0-5cd6-a61d-71cb41aa8f7d
DOI: 10.1101/473744

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