dnil

rhocall

Call regions of homozygosity and make tentative UPD calls

ClinGeneLists

Gene lists and some elementary tools for handling them.

FluFFyPipe

FetaL AneUploidy and FetalFraction analYsis Pipeline

mitosign

mtDNA deletion and depletion signatures from wgs data

mpcircle

Draw CIRCOS plots from WGS MP seq data

OGTtoPED

Convert OGT sample info excel sheets into PED files

AMYCNE

A copy number estimation toolkit

cg

Glue between Clinical Genomics apps

cghtxt2vcf

Convert cgh txt dump to vcf

chromograph

Genetics graphing tool

CNVnator

a tool for CNV discovery and genotyping from depth-of-coverage by mapped reads

cyvcf2

cython + htslib == fast VCF and BCF processing

ExpansionHunter

A tool for estimating repeat sizes

FindSV

structural variation pipeline

FindSV_core

a core module of FindV used to analyse only one chosen bam file

FindTranslocations

FindTranslocations

genmod

Annotate models of genetic inheritance patterns in variant files (vcf files)

human-phenotype-ontology

Ontology for the description of human clinical features

perlminions

perl tools for minION fast5 handling

phenopacket-api

puzzle

A new secret project :P

pyCancerSig

python package for deciphering cancer signature

reference-files

Small reference files

scout

VCF visualization interface

stranger

Tool to annotate outfiles from ExpansionHunter with the pathologic implications of the repeat

SVDB

structural variant database software

TIDDIT

FindTranslocations

trailblazer

Keep track of and manage analyses

udni-tip2toe

vcf2cytosure

Convert VCF with structural variations to CytoSure format