monarch-initiative / pheval

A framework for empirical evaluation of phenotype matching and prioritisation
https://monarch-initiative.github.io/pheval/
Apache License 2.0
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313 add option for hg19 and hg38 vcf for spiking command #314

Closed yaseminbridges closed 6 months ago

yaseminbridges commented 6 months ago

Added separate --hg19-template-vcf and --hg38-template-vcf arguments to the spike vcf command. This allows a corpus of phenopackets with mixed assemblies to be spiked into vcfs.

There is also a refactoring of the methods so that each VCF (if specified) is only read and parsed once during the workflow - this is to improve efficiency and cut down the time taken to carry out the command.