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arriba

Fast and accurate gene fusion detection from RNA-Seq data

automap

Tool to find regions of homozygosity (ROHs) from sequencing data.

awesome-r

A curated list of awesome R packages, frameworks and software.

brain_genomic_data

Brain-related -omics data

cdna_cupcake

Miscellaneous collection of Python and R scripts for processing Iso-Seq data

coloc

Repo for the R package coloc

coloc2

Upgrade to coloc

encorednm

EncoreDNM is a powerful method to estimate concordant de novo mutation associations between disorders.

exttada

Work on de novo mutations and case-control variants

gdc

Short scripts for converting genetic data between formats.

genoppi

Tool for integrative analysis of experimental proteomic data and genetics

ggsashimi

Command-line tool for the visualization of splicing events across multiple samples

gtada

gtex-pipeline

GTEx Consortium data production and analysis pipelines

hic_data

A (continuously updated) collection of references to Hi-C data. Predominantly human/mouse Hi-C data, with replicates.

higlass

Fast contact matrix visualization for the web.

isop

Isoform-level expression patterns in single-cell RNA-sequencing data

isoseq3

IsoSeq3 - Scalable De Novo Isoform Discovery from Single-Molecule PacBio Reads

leafcutter

LeafCutter: Annotation-free quantification of RNA splicing. Yang I Li, David A Knowles, Jonathan K Pritchard.

locuscomparer

LocusCompareR is a R package with visualization tools for comparing two genetic association datasets.

lola

Locus Overlap Analysis: Enrichment of Genomic Ranges

magma_celltyping

Identify cell types underlying the associations found in GWAS summary statistics

mtada

outrigger

Create a *de novo* alternative splicing database, validate splicing events, and quantify percent spliced-in (Psi) from RNA seq data

rmats-dvr

rmats-stat

rmats2sashimiplot

seekr

sequencetools

sjcount

sjcount light version