Pinned Repositories
scout
VCF visualization interface
stranger
Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat
acrscreen
A simple pipeline for Sanger read heterozyosity aware mutation screening
agui
A Graphical User Interface for Parasite Genome Annotation
Cestunepipe
find genes with defined peptide motif in draft nucleotide sequence
ClinGeneLists
Gene lists and some elementary tools for handling them.
hbvdtools
Human Background Variantion Database Tools
rhocall
Call regions of homozygosity and make tentative UPD calls
vcf2cytosure
Convert VCF with structural variations to CytoSure format
TIDDIT
TIDDIT - structural variant calling
dnil's Repositories
dnil/rhocall
Call regions of homozygosity and make tentative UPD calls
dnil/ClinGeneLists
Gene lists and some elementary tools for handling them.
dnil/FluFFyPipe
FetaL AneUploidy and FetalFraction analYsis Pipeline
dnil/mitosign
mtDNA deletion and depletion signatures from wgs data
dnil/AMYCNE
A copy number estimation toolkit
dnil/biowasm
WebAssembly modules for genomics
dnil/cg
Glue between Clinical Genomics apps
dnil/cghtxt2vcf
Convert cgh txt dump to vcf
dnil/chromograph
Genetics graphing tool
dnil/CNVnator
a tool for CNV discovery and genotyping from depth-of-coverage by mapped reads
dnil/cyvcf2
cython + htslib == fast VCF and BCF processing
dnil/ExpansionHunter
A tool for estimating repeat sizes
dnil/FindSV
structural variation pipeline
dnil/FindSV_core
a core module of FindV used to analyse only one chosen bam file
dnil/FindTranslocations
FindTranslocations
dnil/genmod
Annotate models of genetic inheritance patterns in variant files (vcf files)
dnil/human-phenotype-ontology
Ontology for the description of human clinical features
dnil/loqusdb
A simple observation count database
dnil/phenopacket-api
dnil/puzzle
A new secret project :P
dnil/pyCancerSig
python package for deciphering cancer signature
dnil/reference-files
Small reference files
dnil/Ribbon
A genome browser designed for complex structural variants and long reads.
dnil/scout
VCF visualization interface
dnil/stranger
Tool to annotate outfiles from ExpansionHunter with the pathologic implications of the repeat
dnil/SVDB
structural variant database software
dnil/TIDDIT
FindTranslocations
dnil/trailblazer
Keep track of and manage analyses
dnil/udni-tip2toe
dnil/vcf2cytosure
Convert VCF with structural variations to CytoSure format