13 projects
nugap
Vinnicombe nu-gap metric and a pipeline for comparing time-course data across two conditions
variantfold
Classify variants of uncertain significance using AlphaFold-predicted protein structures and graph neural networks.
trace-digitiser
Template-free computer-vision digitisation pipeline for raster scientific line plots.
phenopacket-toolkit
A samtools/bedtools-style command-line toolkit and library for GA4GH Phenopackets
hponorm
Interactively validate and normalise GA4GH phenopacket phenotypic-feature terms against the HPO ontology
mondonorm
Interactively validate and normalise GA4GH phenopacket disease terms against the MONDO ontology
studio2ga4gh
Convert Pedigree Studio sessions to GA4GH Pedigree Standard and Phenopackets
ga4gh2studio
Convert GA4GH Pedigree Standard and Phenopackets to Pedigree Studio session JSON
ga4gh2abusua
Reconstruct Abusua Pedigree Studio session files from GA4GH Pedigree and Phenopackets Family inputs.
abusua2ga4gh
Convert Abusua Pedigree Studio session files to GA4GH Pedigree and Phenopackets.
mpedtools
Tools for working with PED and MPED (multi-phenotype PED) pedigree files
ped2studio
Convert PED and MPED pedigree files to Pedigree Studio session JSON
studio2ped
Convert Pedigree Studio session JSON to PED/MPED pedigree files
