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BCM-Lupskilab

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  1. HMZDelFinder HMZDelFinder Public

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

    R 12 12

  2. VizCNV VizCNV Public

    Forked from cluhaowie/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…

    R 7

  3. AluAluCNVpredictor AluAluCNVpredictor Public

    R 2 3

  4. BafCalculator BafCalculator Public

    B-allele frequency calculator from WES data

    R 2 2

  5. VariantAnalyzer VariantAnalyzer Public

    System for storage, management and analysis of Exome Sequencing Data

    Python 1 2

  6. PhaseDenovo PhaseDenovo Public

    Forked from cluhaowie/PhaseDenovo

    phase de novo variant with long and short read sequencing

    HTML 1

Repositories

Showing 10 of 10 repositories
  • AAMR_DEL Public Forked from cluhaowie/AAMR_DEL

    AAMR-DEL project

    BCM-Lupskilab/AAMR_DEL’s past year of commit activity
    0 Apache-2.0 1 0 0 Updated Dec 20, 2024
  • HMZDupFinder Public Forked from cluhaowie/HMZDupFinder

    A R package for calling homozygous duplication from exome sequencing data

    BCM-Lupskilab/HMZDupFinder’s past year of commit activity
    R 0 2 0 0 Updated Feb 1, 2024
  • Top100HPO Public Forked from Ang17/Top100HPO

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

    BCM-Lupskilab/Top100HPO’s past year of commit activity
    R 0 1 0 0 Updated Apr 27, 2023
  • VizCNV Public Forked from cluhaowie/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.

    BCM-Lupskilab/VizCNV’s past year of commit activity
    R 7 GPL-2.0 2 1 0 Updated Apr 20, 2023
  • PhaseDenovo Public Forked from cluhaowie/PhaseDenovo

    phase de novo variant with long and short read sequencing

    BCM-Lupskilab/PhaseDenovo’s past year of commit activity
    HTML 1 1 0 0 Updated Jun 15, 2022
  • HMZDelFinder Public

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

    BCM-Lupskilab/HMZDelFinder’s past year of commit activity
    R 12 GPL-2.0 12 3 0 Updated Aug 2, 2018
  • AluAluCNVpredictor Public
    BCM-Lupskilab/AluAluCNVpredictor’s past year of commit activity
    R 2 3 0 0 Updated May 21, 2018
  • BafCalculator Public

    B-allele frequency calculator from WES data

    BCM-Lupskilab/BafCalculator’s past year of commit activity
    R 2 2 0 0 Updated Feb 10, 2018
  • VariantAnalyzer Public

    System for storage, management and analysis of Exome Sequencing Data

    BCM-Lupskilab/VariantAnalyzer’s past year of commit activity
    Python 1 2 0 0 Updated Dec 21, 2017
  • DNM-Finder Public
    BCM-Lupskilab/DNM-Finder’s past year of commit activity
    R 0 1 0 0 Updated Oct 19, 2016

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