vidboda

MobiDetails

WebApp for DNA variants interpretation

autofastq

script to automate Illumina bcl2fastq utility

BamCramConvert

script to convert bam2cram and reverse using find and samtools

autonenufaar

Automate nenufaar

ComputeDeltaESRSeq

A simple Perl script to compute DeltaESRSeq to predict exon skipping induced by exonic variants

manifest2intervals

script to convert Illumina manifests (or BED) into intervals files.

nenufaar

DNA NGS pipeline

nenufaarity

singularity recipe for nenufaar container

ngs_designer

perl script to generate BED files for NGS experiments from an gene list

u2

USHVaM2: integrated genetics database system for deafness and blindness team in the Laboratory of Molecular Genetics, Montpellier University Hospital

wdlDev

repos to test WDL

bam2cram-check

getGeneInfo

Perl script to retrieve various info form a list of HGNC genes, including exon coordinates or domain details. In particular generates a BED that can be use to design NGS experiences.

getPanelAppStatus

get some info on the panelapp status of a gene list and panel ID form panelApp API

led

led_utilities

MDUtils

Utilities for MobiDetails

ponp_eval

Script to automatise Pathogenic-Or-Not Predictors assessment

snakemakeDev

just to test snakemake