HDu's repositories
VizCNV
VizCNV is an interactive tool designed to analyze and visualize CNVs from short read WGS data in rare disease research. Built on R Studio Shiny, it streamlines the identification of complex genomic rearrangements and facilitates advancements in understanding and diagnosing rare genetic conditions.
GREGoR_RareVariantAnalyzer
Shiny app for parsing the vcf
Language:RGPL-2.0000
HMZDelFinder
CNV calling algorithm for detection of homozygous and hemizygous deletions from whole exome sequencing data
Language:RGPL-2.0000
Language:HTML000
SECNVs
A tool for simulating CNVs for WES data. It simulates rearranged genome(s), short reads (fastq) and BAM file(s) automatically in one single command.
Language:PythonMIT000