Jules Jacobsen

Investigate encoding gnomAD, frequency and pathogenicity data separately in AlleleProperties proto

3

Currently all allele data is stored as a map of `string`: `float` in an `AlleleProperties` message. The size on disk for these is about 60 GB when unpacked (and even...

String is now at 11.5 and older DB versions may contain missing links leading to users looking at pages with no links between proteins of interest.

Enable Short Tandem Repeat prioritisation using ExpansionHunter

2

https://github.com/Illumina/ExpansionHunter/blob/master/docs/06_OutputVcfFiles.md

Issue ---- Given I run the same sample using two separate analyses e.g. genome and exome presets ```shell --analysis genome.yml --sample examples/pfeiffer-phenopacket.yml --vcf examples/Pfeiffer.vcf.gz --analysis exome.yml --sample examples/pfeiffer-phenopacket.yml --vcf examples/Pfeiffer.vcf.gz...

Take HPO annotations from HPOA file

1

http://compbio.charite.de/jenkins/job/hpo.annotations.current/lastSuccessfulBuild/artifact/current/phenotype.hpoa

VarCopp

1

http://varcopp.ibsquare.be/about/