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alualucnvpredictor

bafcalculator

B-allele frequency calculator from WES data

dnm-finder

hmzdelfinder

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

hmzdupfinder

A R package for calling homozygous duplication from exome sequencing data

phasedenovo

phase de novo variant with long and short read sequencing

top100hpo

Gives top 100 phenotypically similar gene/disease matches for set(s) of probands/genes/diseases annotated with HPO terms

variantanalyzer

System for storage, management and analysis of Exome Sequencing Data

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.