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@BCM-Lupskilab BCM-Lupskilab

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    Repositories list

    10 repositories

    • 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 …
      shiny-appsrare-diseasecnv-analysis
      shiny-appsrare-diseasecnv-analysis
      R
      •
      Apache License 2.0
      •4•9•1•0•Updated Feb 5, 2026Feb 5, 2026

    • AAMR_DEL

      Public
      AAMR-DEL project
      Apache License 2.0
      •1•0•0•0•Updated Jan 13, 2026Jan 13, 2026

    • HMZDelFinder

      Public
      CNV calling algorithm for detection of homozygous and hemizygous deletions from whole exome sequencing data
      R
      •
      GNU General Public License v2.0
      •12•12•0•0•Updated Nov 9, 2025Nov 9, 2025

    • HMZDupFinder

      Public
      A R package for calling homozygous duplication from exome sequencing data
      R
      •2•0•0•0•Updated Feb 1, 2024Feb 1, 2024

    • Top100HPO

      Public
      Gives top 100 phenotypically similar gene/disease matches for set(s) of probands/genes/diseases annotated with HPO terms
      R
      •1•0•0•0•Updated Apr 27, 2023Apr 27, 2023

    • PhaseDenovo

      Public
      phase de novo variant with long and short read sequencing
      HTML
      •1•1•0•0•Updated Jun 15, 2022Jun 15, 2022

    • AluAluCNVpredictor

      Public
      R
      •3•2•0•0•Updated May 21, 2018May 21, 2018

    • BafCalculator

      Public
      B-allele frequency calculator from WES data
      R
      •2•2•0•0•Updated Feb 10, 2018Feb 10, 2018

    • VariantAnalyzer

      Public
      System for storage, management and analysis of Exome Sequencing Data
      Python
      •2•1•0•0•Updated Dec 21, 2017Dec 21, 2017

    • DNM-Finder

      Public
      R
      •1•0•0•0•Updated Oct 19, 2016Oct 19, 2016
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