mhguo1 / TRAPDView external linksLinks
Burden testing against public controls
☆50Feb 27, 2024Updated last year
Alternatives and similar repositories for TRAPD
Users that are interested in TRAPD are comparing it to the libraries listed below
Sorting:
- A machine learning tool to predict tandem repeat pathogenicity☆12Jan 2, 2024Updated 2 years ago
- StrVCTVRE, a structural variant classifier for exonic deletions and duplications☆19Dec 6, 2023Updated 2 years ago
- A simple observation count database☆11Jan 13, 2026Updated last month
- A phenotype-based tool for variant prioritization in WES and WGS data☆42Nov 21, 2022Updated 3 years ago
- This is a pipeline for variant annotation in the diagnosis of rare genetic disorders. It relies on open source data and has instructions …☆18Mar 20, 2023Updated 2 years ago
- Divine: Prioritizing Genes for Rare Mendelian Disease in Whole Exome Sequencing Data☆13Apr 18, 2019Updated 6 years ago
- ☆18Mar 14, 2022Updated 3 years ago
- ☆14Dec 13, 2023Updated 2 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Aug 13, 2025Updated 6 months ago
- Differential Mutation Analysis☆11May 24, 2020Updated 5 years ago
- Website to analyze conflicting assertions in ClinVar☆19Jan 24, 2026Updated 3 weeks ago
- Gene Exploration System for Variance☆22Dec 8, 2022Updated 3 years ago
- Natural Language Search and Analysis of High Dimensional Genomic Data☆48Aug 7, 2025Updated 6 months ago
- Introme prioritises coding and noncoding splice-altering variants for clinical variant interpretation☆22Dec 18, 2025Updated last month
- A tool for visualizing alignments of reads in regions containing tandem repeats☆90Dec 19, 2023Updated 2 years ago
- ☆13May 2, 2018Updated 7 years ago
- PanGenome Graph Building with the first 100 assemblies from the 1000G ONT Sequencing Consortium☆12Apr 5, 2025Updated 10 months ago
- A tool for diagnosing SMA in exome, genome or targeted sequencing data☆13Apr 30, 2025Updated 9 months ago
- extract SV signal from a BAM☆11Jul 26, 2018Updated 7 years ago
- Call regions of homozygosity and make tentative UPD calls☆12Jun 27, 2025Updated 7 months ago
- Website for checking a variant's SpliceAI, Pangolin, and other scores:☆29Feb 10, 2026Updated last week
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆206May 28, 2023Updated 2 years ago
- Data and information about the Polaris study☆55Nov 18, 2019Updated 6 years ago
- dv-trio provides a pipeline to call variants for a trio (father-mother-child) using DeepVariants [1]. Genomic Variant Calling Files (gVCF…☆11Feb 3, 2021Updated 5 years ago
- Simple matching of HTS samples based on HLA typing☆13Jan 4, 2017Updated 9 years ago
- Structural Variation breakpoint discovery via adaptive learning☆16Jul 6, 2023Updated 2 years ago
- MrMosaic (Genomic Mosaic Structural Variant Caller)☆15Jul 21, 2017Updated 8 years ago
- LEGACY repository for SODAR Core, preserved for saving review-related issues. See "sodar-core" for the up-to-date repository.☆15Jun 1, 2022Updated 3 years ago
- ☆16Sep 14, 2023Updated 2 years ago
- pathoscore evaluates variant pathogenicity tools and scores.☆22Mar 25, 2022Updated 3 years ago
- VarFish: comprehensive DNA variant analysis for diagnostics and research☆52Updated this week
- Dynamic time warping of Oxford Nanopore squiggle data to characterize tandem repeats.☆32Jul 2, 2020Updated 5 years ago
- POSTRE: Prediction Of STRuctural variant Effects☆28Jan 9, 2026Updated last month
- Tandem repeat genotyping with long reads☆35Sep 23, 2025Updated 4 months ago
- anor: an annotation and visualization system based on R and Shiny framework☆33Apr 20, 2020Updated 5 years ago
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆34Nov 19, 2025Updated 2 months ago
- Detect novel (and reference) STR expansions from short-read data☆70Dec 6, 2025Updated 2 months ago
- Script to convert GTC/BPM files to VCF☆48Oct 13, 2025Updated 4 months ago
- CN-Learn☆30Jan 24, 2020Updated 6 years ago