MacArthur Lab (@macarthur-lab)
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Top repositories

1

gene_lists

List of gene lists for genomic analyses.
Python
214
star
2

clinvar

This repo provides tools to convert ClinVar data into a tab-delimited flat file, and also provides that resulting tab-delimited flat file.
Python
122
star
3

igv_utils

utilities for working with IGV: opening files remotely in either desktop IGV or a web viewer (igv.js), creating screenshots, etc.
JavaScript
47
star
4

gnomad_browser

gnomAD browser pre-ASHG 2018
JavaScript
33
star
5

tx_annotation

Code associated with 2019 manuscript entitled "Transcript expression-aware annotation improves rare variant discovery and interpretation"
Python
33
star
6

exac_2015

Companion repo for ExAC paper, 2015
R
31
star
7

omim

Repo for downloading and storing OMIM data
Python
17
star
8

gnomad_mnv

Multi-nucleotide variants (MNVs) in gnomAD 2.1
Jupyter Notebook
11
star
9

matchbox

matchbox server for the Matchmaker Exchange
Java
5
star
10

obo_parser

Parses ontologies in .obo format (such as the Human Phenotype Ontology) and converts them to a .tsv table.
Python
5
star
11

gnomad_lrrk2

R
3
star
12

Spidex

VEP plugin which annotates variants with Spidex scores (see http://www.deepgenomics.com/spidex/)
Python
3
star
13

exon_skipping

Collection of manually-curated variants that cause exon skipping
E
3
star
14

leiden_sc

Repository to practice code review and best development practices with Software Carpentry.
Python
3
star
15

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.
Python
2
star
16

elasticsearch-kubernetes-cluster

Scripts for deploying a stand-alone elasticsearch cluster - based on https://github.com/pires/kubernetes-elasticsearch-cluster
Python
1
star