bdolmo

GenePanel-Multimap

Simple perl script to extract mappability from a ROI file

RivIndel

Revealing Interspersed Variants into single compound complex indels

SpikeInBAM

bioconda-recipes

Conda recipes for the bioconda channel.

CeLAuth

Cell Line Authentication from ChIP-seq data

CharGer

Characterization of Germline variants

chatgpt-pubmed

dbNSFP_hg38ToHg19

DECoN

DeepBindTK

Toolkit for applying DeepBind Motif predictions

GRAPES

Integrated analysis of Structural and Copy Number Variants on clinical targeted sequencing data

GRAPES2

GRAPES2: Improved CNV/SV detection on gene panel sequencing

ensembl-vep

The Ensembl Variant Effect Predictor predicts the functional effects of genomic variants

igv.js

Embeddable genomic visualization component based on the Integrative Genomics Viewer

NGS_APP

panelCNVsim

runcnvcallers

SFA

Simple Family Analysis

SpliceMerger

Legacy code written with noobness, though it does the job.

vcf2json

Convert an standard VCF to JSON format