/exomiser_allele_store

Experimental project for parsing and sorting large numbers of alleles.

Primary LanguageJava

Exomiser Allele Store

This library is used to parse the ExAC, Thousand Genomes, Exome Server Project(ESP) and dbNSFP databases to extract alleles, their rsId, associated frequencies and predicted pathogenicities.

The term 'allele' is used to be in line with the terminology of the GA4GH VMC project vmc:allele