cluhaowie Goto Github PK

cluhaowie

My personal repository

gregor_rarevariantanalyzer

Shiny app for parsing the vcf

hmzdelfinder

CNV calling algorithm for detection of homozygous and hemizygous deletions from whole exome sequencing data

hmzdupfinder

phasedenovo

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.

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.