Name: Jean-Baptiste Lamouche
Type: User
Company: Strasbourg University Hospital, Centre de recherche en biomédecine de Strasbourg
Bio: Bioinformatician working in computational biology field especially in genetics diagnosis and medical research
Location: Strasbourg
Jean-Baptiste Lamouche's Projects
Annotation and Ranking of Structural Variation
HOWARD annotates (using ANNOVAR and snpEff) and prioritizes (rules to Flag and Score) genetic variations, calculates and normalizes annotations, translates and export VCF format (into VCF or TSV) and generates variants statistics (bcftools and snpEff)
ThermoFisher Ion Torrent plugin to detect fetal trisomies and estimate fetal fraction
A Variant Call Format reader for Python.
A deep learning-based tool to identify splice variants
Annotation and ranking of SNV / indels
Explore VCF files and more
python plotly Circos from VCF