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acrscreen

A simple pipeline for Sanger read heterozyosity aware mutation screening

agui

A Graphical User Interface for Parasite Genome Annotation

amycne

A copy number estimation toolkit

cestunepipe

find genes with defined peptide motif in draft nucleotide sequence

cg

Glue between Clinical Genomics apps

cghtxt2vcf

Convert cgh txt dump to vcf

chanjo

Chanjo provides a better way to analyze coverage data in clinical sequencing.

chromograph

Genetics graphing tool

clingenelists

Gene lists and some elementary tools for handling them.

cnvnator

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

cyvcf2

cython + htslib == fast VCF and BCF processing

etiologica

Pipelines and decision support tools for Massively Parallel Human Medical Genetics

expansionhunter

A tool for estimating repeat sizes

filogenetic

Tools for evaluating and processing filarial worm assemblies

findsv

structural variation pipeline

findsv_core

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

findtranslocations

FindTranslocations

fluffypipe

FetaL AneUploidy and FetalFraction analYsis Pipeline

genmod

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

hbvdtools

Human Background Variantion Database Tools

human-phenotype-ontology

Ontology for the description of human clinical features

malariamotifs

Find protein motifs (from DNA variation data) and correlate to phenotype

mimicdb

A database for describing linear epitope molecular mimicry

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

perlminions

perl tools for minION fast5 handling

phenopacket-api

puzzle

A new secret project :P

pycancersig

python package for deciphering cancer signature