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biotools

Genes variants annotation tools using online services. Also does basic manipulations of HPO.

eklipse

a tool for predicting mitochondrial DNA deletions using soft-clipping

gatk

Official code repository for GATK versions 4 and up

learning_vcf_file

Learning the Variant Call Format

longread_tutorials

Workflows and tutorials for LongRead analysis with specific focus on Oxford Nanopore data

mphil-genomic-medicine

Scripts for MPhil research project (Exploring Cancer Predisposition in the 100,000 Genomes Project dataset)

mtoolbox

A bioinformatics pipeline to analyze mtDNA from NGS data

ngs_rna

rnaseq_tutorial

Informatics for RNA-seq: A web resource for analysis on the cloud. Educational tutorials and working pipelines for RNA-seq analysis including an introduction to: cloud computing, critical file formats, reference genomes, gene annotation, expression, differential expression, alternative splicing, data visualization, and interpretation.

rvtests

Rare variant test software for next generation sequencing data

single-cell-tutorial

Single cell current best practices tutorial case study for the paper:Luecken and Theis, "Current best practices in single-cell RNA-seq analysis: a tutorial"

trapd

Burden testing against public controls