Tests Allelic Expression data for extreme imbalance w.r.t. population
☆11Oct 8, 2021Updated 5 years ago
Alternatives and similar repositories for ANEVA-DOT
Users that are interested in ANEVA-DOT are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- Divine: Prioritizing Genes for Rare Mendelian Disease in Whole Exome Sequencing Data☆13Apr 18, 2019Updated 7 years ago
- A side-project from the AIP, containing the code, logic, and documentation for the ClinVar consequence reassessment process in use at the…☆12Sep 11, 2026Updated last month
- Nanopore sequencing-based episignature detection☆19Jun 10, 2026Updated 4 months ago
- Nextflow pipeline for generation of phylogenetic trees to be visualized in Auspice.☆11Jan 6, 2026Updated 9 months ago
- This repo is be archived, these workflows are still housed housed in the GATK repository under the scripts directory. The workflows are a…☆22Mar 9, 2020Updated 6 years ago
- 1-Click AI Models by DigitalOcean Gradient • AdDeploy popular AI models on DigitalOcean Gradient GPU virtual machines with just a single click. Zero configuration with optimized deployments.
- ☆14Jul 14, 2026Updated 3 months ago
- Clinical machine-learning based interpreter of germline mutations.☆11Mar 13, 2025Updated last year
- ☆11Jul 13, 2018Updated 8 years ago
- ☆10Mar 5, 2019Updated 7 years ago
- Calculates the probability of a haplotype given a population reference panel☆12Dec 9, 2024Updated last year
- Collapsed Haplotype Pattern Method for Linkage Analysis of Next-Generation Sequencing Data☆11Apr 12, 2023Updated 3 years ago
- A nextflow pipeline for analysing expression and splicing in RNA seq data from rare disease patient☆20Oct 15, 2026Updated 2 weeks ago
- Variant catalogue pipeline☆26Jan 30, 2026Updated 9 months ago
- Structural Variation breakpoint discovery via adaptive learning☆17Jul 6, 2023Updated 3 years ago
- Managed hosting for WordPress and PHP on Cloudways • AdManaged hosting for WordPress, Magento, Laravel, or PHP apps, on multiple cloud providers. Deploy in minutes on Cloudways by DigitalOcean.
- Human mitochondrial variants annotation using HmtVar.☆18Oct 16, 2023Updated 3 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆76Jun 26, 2023Updated 3 years ago
- ☆36Mar 2, 2021Updated 5 years ago
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆91Oct 5, 2026Updated 3 weeks ago
- PharmGKB NGS Pipeline☆19Oct 2, 2018Updated 8 years ago
- A python wrapper around SURVIVOR☆20Feb 15, 2024Updated 2 years ago
- FRASER - Find RAre Splicing Events in RNA-seq☆58Updated this week
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆59Feb 17, 2022Updated 4 years ago
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆50Jun 18, 2026Updated 4 months ago
- Bare Metal GPUs on DigitalOcean Gradient AI • AdPurpose-built for serious AI teams training foundational models, running large-scale inference, and pushing the boundaries of what's possible.
- HAT is a set of tools for calling de novo variants from whole-genome sequencing data.☆24Nov 18, 2025Updated 11 months ago
- structural variant database software☆50Updated this week
- Phase reads, assemble haplotypes and detect SVs☆19Nov 11, 2020Updated 5 years ago
- ☆20Mar 31, 2021Updated 5 years ago
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆19May 9, 2024Updated 2 years ago
- Automated ACMG/AMP classification for human variants associated with congenital hearing loss☆11May 14, 2025Updated last year
- VEP Plugin to annotate high-impact five prime UTR variants☆30Aug 23, 2024Updated 2 years ago
- All data and notebook for my 2020 scRNA-seq analysis workshop☆18Jul 27, 2020Updated 6 years ago
- VCF file compressor reaching over 30-fold efficiency on massive genotype datasets, with processing speeds up to 100 MB/s and peak memory …☆19Oct 5, 2026Updated 3 weeks ago
- Managed Database hosting by DigitalOcean • AdPostgreSQL, MySQL, MongoDB, Kafka, Valkey, and OpenSearch available. Automatically scale up storage and focus on building your apps.
- Pipeline for structural variant image curation and analysis.☆49Dec 5, 2021Updated 4 years ago
- Detection and genotyping of structural variants☆24May 27, 2026Updated 5 months ago
- Automatic classification of sequence variants and CNVs according to ACMG criteria.☆34Sep 30, 2024Updated 2 years ago
- ☆21Aug 30, 2022Updated 4 years ago
- Unfazed by genomic variant phasing☆29May 26, 2024Updated 2 years ago
- Call and score variants from WGS/WES of rare disease patients.☆126Oct 22, 2026Updated last week
- (WIP) best-practices workflow for rare disease☆64Jul 1, 2024Updated 2 years ago