Pinned Repositories
ABACBSAbsSS
Conference abstract submission and review web application
ABACBSAbsSS-2024
Conference abstract submission and review web application - update for use in 2024
hap.py
Haplotype VCF comparison tools
MitoSeek
Seeking information like heteroplasmy, structure variants, etc. on Mitochondrial genome from next generation sequencing
SVPV
Structural Variant Prediction Viewer
dv-trio
dv-trio provides a pipeline to call variants for a trio (father-mother-child) using DeepVariants [1]. Genomic Variant Calling Files (gVCFs) created by DeepVariants are then co_called together using GATK[2]. The resultant trio VCF is then post-processing with FamSeq[3] to eliminate mendelian errors.
MetaDenovo
MetaDenovo : An automated framework to detect de novo mutations from whole genome trio data using cloud computing technology.
VPOT
VPOT - Variant Prioritisation Ordering Tool. VPOT is a Python tool written to allow prioritisation of variants in ANNOVAR annotated VCF files.
eipVCCRI's Repositories
eipVCCRI/ABACBSAbsSS-2024
Conference abstract submission and review web application - update for use in 2024
eipVCCRI/hap.py
Haplotype VCF comparison tools
eipVCCRI/MitoSeek
Seeking information like heteroplasmy, structure variants, etc. on Mitochondrial genome from next generation sequencing
eipVCCRI/SVPV
Structural Variant Prediction Viewer