Article

Allele Dispersion Score: Quantifying the range of allele frequencies across populations, based on UMAP

2022-02-11

Abstract excerpt

Genomic variation plays a crucial role in biology, serving as a base for evolution - allowing for adaptation on a species or population level. At the individual level, however, specific alleles can be implicated in diseases. To interpret genetic variants identified in an individual potentially affected with a rare genetic disease, it is fundamental to know the population frequency of each allele, ideally in an anc...

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Literature Corpus work: e8fa36ba-5b58-5dd9-9e68-ead79a1fd3c9
DOI: 10.1101/2022.02.11.479970

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