JbaptisteLam
Bioinformatician working in computational biology field especially in genetics diagnosis and medical research
Strasbourg University Hospital, Centre de recherche en biomédecine de StrasbourgStrasbourg
Pinned Repositories
AnnotSV
Annotation and Ranking of Structural Variation
howard
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)
IonNIPT
ThermoFisher Ion Torrent plugin to detect fetal trisomies and estimate fetal fraction
PyVCF3
A Variant Call Format reader for Python.
SpliceAI
A deep learning-based tool to identify splice variants
VaRank_fix
Annotation and ranking of SNV / indels
variantconvert
VariantScreening
Explore VCF files and more
vcf2circos
python plotly Circos from VCF
JbaptisteLam's Repositories
JbaptisteLam/AnnotSV
Annotation and Ranking of Structural Variation
JbaptisteLam/howard
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)
JbaptisteLam/IonNIPT
ThermoFisher Ion Torrent plugin to detect fetal trisomies and estimate fetal fraction
JbaptisteLam/PyVCF3
A Variant Call Format reader for Python.
JbaptisteLam/SpliceAI
A deep learning-based tool to identify splice variants
JbaptisteLam/VaRank_fix
Annotation and ranking of SNV / indels
JbaptisteLam/variantconvert
JbaptisteLam/VariantScreening
Explore VCF files and more
JbaptisteLam/vcf2circos
python plotly Circos from VCF