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1. VizCNV VizCNV Public

   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…

   R 2 2

2. HMZDelFinder HMZDelFinder Public

   Forked from BCM-Lupskilab/HMZDelFinder

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

   R

3. SECNVs SECNVs Public

   Forked from YJulyXing/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.

   Python

4. PhaseDenovo PhaseDenovo Public

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5. GREGoR_RareVariantAnalyzer GREGoR_RareVariantAnalyzer Public

   Shiny app for parsing the vcf

   R

6. HMZDupFinder HMZDupFinder Public

   R 2