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Genomics England's Projects

gel_to_opentargets icon gel_to_opentargets

Scripts for transforming Genomics England data into a form suitable for Open Targets

gyda icon gyda

A tool to map short free text to phenotypic ontology terms

hgvs icon hgvs

HGVS variant name parsing and generation

how-to-git icon how-to-git

Git repo to show how to use fetch/rebase/review PRs like a boss

jca_cfdna_project_code icon jca_cfdna_project_code

code for matching WGS samples to cfDNA samples, based on containing certain key genes in the tiering file

juli icon juli

Junction Location Identifier (JuLI): DNA fusion detection tool for clinical sequencing.

make_erd icon make_erd

Python script to auto-generate ER diagrams from database connections

ngis-mq-report icon ngis-mq-report

R and Rmd scripts for the generation of reports off the back of NGIS MQ

nhse_contractural_metrics icon nhse_contractural_metrics

ETLs to generate the contractural metrics for distribution to GLHs and NHSE https://cnfl.extge.co.uk/display/CDT/NHS+Contractural+Metrics

panelapp icon panelapp

Genomics England PanelApp - A crowdsourcing tool to allow gene panels to be shared, downloaded, viewed and evaluated by the Scientific Community

pc-docker-clamav icon pc-docker-clamav

Dockerized open source antivirus for use with file sharing containers, REST API or TCP.

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