A phenotype-based tool for variant prioritization in WES and WGS data
☆42Nov 21, 2022Updated 3 years ago
Alternatives and similar repositories for phenomenet-vp
Users that are interested in phenomenet-vp are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆48Jun 18, 2026Updated 2 months ago
- VPOT - Variant Prioritisation Ordering Tool. VPOT is a Python tool written to allow prioritisation of variants in ANNOVAR annotated VCF f…☆19Oct 27, 2021Updated 4 years ago
- Rails application for storing and parsing clinical exome VCF files. Gene annotations can be retrieved via Biomart integration from Ensemb…☆10May 7, 2017Updated 9 years ago
- ☆13May 2, 2018Updated 8 years ago
- A tool for diagnosing SMA in exome, genome or targeted sequencing data☆13Jul 1, 2026Updated 2 months ago
- Virtual machines for every use case on DigitalOcean • AdGet dependable uptime with 99.99% SLA, simple security tools, and predictable monthly pricing with DigitalOcean's virtual machines, called Droplets.
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Mar 4, 2019Updated 7 years ago
- A CNN model to identify MEIs in WGS☆14Mar 4, 2025Updated last year
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆18Mar 10, 2018Updated 8 years ago
- Burden testing against public controls☆51Feb 27, 2024Updated 2 years ago
- PanGenome Graph Building with the first 100 assemblies from the 1000G ONT Sequencing Consortium☆14Apr 5, 2025Updated last year
- A tool for visualizing alignments of reads in regions containing tandem repeats☆92Apr 20, 2026Updated 4 months ago
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆213May 28, 2023Updated 3 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆32Jul 3, 2026Updated 2 months ago
- Genomic VCF to tab-separated values☆50May 23, 2026Updated 3 months ago
- Proton VPN Special Offer - Get 70% off • AdSpecial partner offer. Trusted by over 100 million users worldwide. Tested, Approved and Recommended by Experts.
- Blue Collar Bioinformatics website☆10Apr 30, 2024Updated 2 years ago
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆18Mar 10, 2022Updated 4 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆22Aug 18, 2020Updated 6 years ago
- Miscellaneous scripts for applications of PacBio systems☆27Apr 19, 2022Updated 4 years ago
- A Tool to Annotate and Prioritize Exome Variants☆264Aug 3, 2026Updated last month
- Divine: Prioritizing Genes for Rare Mendelian Disease in Whole Exome Sequencing Data☆13Apr 18, 2019Updated 7 years ago
- ☆42Jul 3, 2025Updated last year
- Pre-mAsking Long reads for Mobile Element inseRtion☆10Feb 27, 2023Updated 3 years ago
- A tool that lets you quickly flip through images in a local directory and record notes or answer questions about each one.☆22Jul 23, 2026Updated last month
- AI Agents on DigitalOcean Gradient AI Platform • AdBuild production-ready AI agents using customizable tools or access multiple LLMs through a single endpoint. Create custom knowledge bases or connect external data.
- Introme prioritises coding and noncoding splice-altering variants for clinical variant interpretation☆24Aug 27, 2026Updated last week
- Preprocessing sequencing data for allele-specific analysis☆13Mar 11, 2025Updated last year
- A machine learning tool to predict tandem repeat pathogenicity☆12Jan 2, 2024Updated 2 years ago
- Detect novel (and reference) STR expansions from short-read data☆71Dec 6, 2025Updated 9 months ago
- VarFish: comprehensive DNA variant analysis for diagnostics and research☆53Updated this week
- This is a pipeline for variant annotation in the diagnosis of rare genetic disorders. It relies on open source data and has instructions …☆17Mar 20, 2023Updated 3 years ago
- hail-based pipelines for annotating variant callsets and exporting them to clickhouse☆23Aug 6, 2026Updated last month
- ☆32Dec 6, 2024Updated last year
- Tandem repeat genotyping with long reads☆40Sep 23, 2025Updated 11 months ago
- Deploy to Railway using AI coding agents - Free Credits Offer • AdUse Claude Code, Codex, OpenCode, and more. Autonomous software development now has the infrastructure to match with Railway.
- A visualization tool for Systems-Level Interactive Data Exploration☆12Jan 12, 2022Updated 4 years ago
- Fast and scalable variant annotation tool☆30May 1, 2022Updated 4 years ago
- Website to analyze conflicting assertions in ClinVar☆20Mar 16, 2026Updated 5 months ago
- VCF-Miner: A graphical user interface for sorting, filtering and querying annotated VCF Files☆37Nov 19, 2019Updated 6 years ago
- Parakit is a tool to analyze the RCCX module, which contain the CYP21A2 gene, using long sequencing reads.☆15Jun 29, 2026Updated 2 months ago
- Seave is a web platform that enables genetic variants to be easily filtered and annotated with in silico pathogenicity prediction scores …☆17Aug 9, 2018Updated 8 years ago
- ☆24Jul 29, 2025Updated last year