pyJASPAR: A Pythonic interface to JASPAR transcription factor motifs

software for analysis of chromatin feature occupancy profiles from high-throughput sequencing data

ClassifyCNV: a tool for clinical annotation of copy-number variants

Make Complex Heatmaps

Advanced plotting functions for CNV data generated by CNV-Seq and Control Freec

Github for files currently published in the IPD-IMGT/HLA FTP Directory hosted at the European Bioinformatics Institute

Benchmarking HLA genotype prediction from scRNA data

Python library to handle Gene Ontology (GO) terms

A bioinformatics pipeline to analyze mtDNA from NGS data

Battenberg R package for subclonal copynumber estimation

Forked from https://bitbucket.org/nmcgranahan/pancancerclonality/src/master/.

🍪 SEnsible Step-wise Analysis of DNA MEthylation BeadChips

External LOVD data viewer; allows any PHP website to show live data from a remote LOVD3 instance.

LOVD3 development repository

Tool for detecting novel processed Pseudogenes

Method developmen projects funded by SSF

The Ensembl Variant Effect Predictor predicts the functional effects of genomic variants

Python application to generate self-contained pages embedding IGV visualizations, with no dependency on original input files.

An insertion caller for Illumina paired-end WGS data.

The K-mer Analysis Toolkit (KAT) contains a number of tools that analyse and compare K-mer spectra.

An et al. Nature Communications 2023

Convert text markup to html. Markdown, rST, Textile etc.

Django app for user friendly querying of Django models

Django REST framework-based Digital Patient Registration and EMR backend

Tools (written in C using htslib) for manipulating next-generation sequencing data