There are no reviews yet. Be the first to send feedback to the community and the maintainers!
gene_lists
List of gene lists for genomic analyses.clinvar
This repo provides tools to convert ClinVar data into a tab-delimited flat file, and also provides that resulting tab-delimited flat file.igv_utils
utilities for working with IGV: opening files remotely in either desktop IGV or a web viewer (igv.js), creating screenshots, etc.gnomad_browser
gnomAD browser pre-ASHG 2018tx_annotation
Code associated with 2019 manuscript entitled "Transcript expression-aware annotation improves rare variant discovery and interpretation"exac_2015
Companion repo for ExAC paper, 2015omim
Repo for downloading and storing OMIM datagnomad_mnv
Multi-nucleotide variants (MNVs) in gnomAD 2.1matchbox
matchbox server for the Matchmaker Exchangeobo_parser
Parses ontologies in .obo format (such as the Human Phenotype Ontology) and converts them to a .tsv table.Spidex
VEP plugin which annotates variants with Spidex scores (see http://www.deepgenomics.com/spidex/)exon_skipping
Collection of manually-curated variants that cause exon skippingleiden_sc
Repository to practice code review and best development practices with Software Carpentry.exac-readviz
Scripts used to generate the reassembled HaplotypeCaller -bamout bams that underly the read data visualizations which appear at the bottom of ExAC browser variant pages.elasticsearch-kubernetes-cluster
Scripts for deploying a stand-alone elasticsearch cluster - based on https://github.com/pires/kubernetes-elasticsearch-clusterLove Open Source and this site? Check out how you can help us