Pinned Repositories
InterVar
A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline
METEORE
Automatic DNA methylation detection from nanopore tools and their consensus model
MIP
Mutation Identification Pipeline. Read the latest documentation:
NGS_genotype_calling
pooled_family
Squirls
Interpretable prioritization of splice variants in diagnostic next-generation sequencing
tools
variant_prioritization
Workflows taking Exome/WGS fastq files to prioritized variants
ClinSV
Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data
HiFi-human-WGS-WDL
Bin-Guan's Repositories
Bin-Guan/InterVar
A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline
Bin-Guan/METEORE
Automatic DNA methylation detection from nanopore tools and their consensus model
Bin-Guan/MIP
Mutation Identification Pipeline. Read the latest documentation:
Bin-Guan/NGS_genotype_calling
Bin-Guan/pooled_family
Bin-Guan/Squirls
Interpretable prioritization of splice variants in diagnostic next-generation sequencing
Bin-Guan/tools
Bin-Guan/variant_prioritization
Workflows taking Exome/WGS fastq files to prioritized variants