Repositories list

• AAMR_DEL

  Public
  AAMR-DEL project

  Apache License 2.0

  •1•0•0•0•Updated Dec 20, 2024Dec 20, 2024

• 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

• 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 rearrangements and facilitates advancements in understanding and diagnosing rare genetic conditions.

  shiny-appsrare-diseasecnv-analysis

  R

  •

  GNU General Public License v2.0

  •2•7•1•0•Updated Apr 20, 2023Apr 20, 2023

• PhaseDenovo

  Public
  phase de novo variant with long and short read sequencing

  HTML

  •1•1•0•0•Updated Jun 15, 2022Jun 15, 2022

• 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•3•0•Updated Aug 2, 2018Aug 2, 2018

• 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