Official code repository for GATK versions 4 and up

Genome-scale protein function classification

RTG Tools: Utilities for accurate VCF comparison and manipulation

A powerful open source data warehouse system

Various algorithms for analysing genomics data

A Tool to Annotate and Prioritize Exome Variants

Generic Java genotype reader / writer, QTL mapping software, Strand alignment tool

MEGAN Community Edition

Annotation of VCF variants with functional impact and from databases (executable+library)

NGSEP is an integrated framework for analysis of short and long DNA high throughput sequencing reads. A complete list of functionalities is available in sourceforge (https://sourceforge.net/p/ngsep…

RTG Core: Software for alignment and analysis of next-gen sequencing data.

Mapped QC analysis program

A phenotype-based tool for variant prioritization in WES and WGS data

Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing

UFCG: Universal Fungal Core Genes

Fast and scalable variant annotation tool

LIkelihood Ratio Interpretation of Clinical AbnormaLities

PathOS is a clinical application for filtering, analysing and reporting on NGS variants

Interpretable prioritization of splice variants in diagnostic next-generation sequencing

180+ Java applications for analyzing next generation sequencing data from ChIPSeq, RNASeq, BisSeq, DNASeq, variant annotation/ filtering, alignment/VCF QC, capture array design, IGV/ DAS2/IGB/UCSC …

A comprehensive platform for population-scale genomic analyses

classification of higher-order structural variants from breakpoint data

A method to improve mappings on circular genomes, using the BWA mapper

For more details about Mobster please see

Clinical intuition with likelihood ratios

Files needed to build and run Sequedex V2.

The MicroArray Rastering Tool