Stars
A deep learning-based tool to identify splice variants
Detect novel (and reference) STR expansions from short-read data
Integrative Genomics Viewer. Fast, efficient, scalable visualization tool for genomics data and annotations
A free, open-source web app for visualizing splice junctions, expression, and other sequencing data genome-wide using IGV.js
An interactive learning resource for next-generation sequencing (NGS) techniques
Pipeline to find aberrant events in RNA-Seq data, useful for diagnosis of rare disorders
📖 A guide for your daily "professional" interactions
A suite of tools for detecting expansions of short tandem repeats
A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline
Integrated tool to build efficiently a genetic pedigree, a boadicea file and generate the corresponding clinical story [english/french]. Outil intégré pour construire efficacement un pedigree génét…
A standalone and free application to explore genetics variations from VCF file
Music composition using Deep Neural Networks (LSTMs).
WoWAnalyzer is a tool to help you analyze and improve your World of Warcraft raiding performance through various relevant metrics and gameplay suggestions.
DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease.
The open-source version of PhenoTips is no longer maintained. PhenoTips makes it simple to record clinical findings observed in patients with possible genetic disorders through an easy-to-use Web i…
The official heavy client (in Qt) of the Regovar project
[Thunderbird Add-On] Central user interface to manage cloud accounts and to synchronize their contact, task and calendar information with Thunderbird
Zotero is a free, easy-to-use tool to help you collect, organize, annotate, cite, and share your research sources.
assisted and standardised assessment of gene variations from Sanger data
The Ensembl Variant Effect Predictor predicts the functional effects of genomic variants