pathoscore evaluates variant pathogenicity tools and scores.
☆22Mar 25, 2022Updated 4 years ago
Alternatives and similar repositories for pathoscore
Users that are interested in pathoscore are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- find large indels (in the blind spot between GATK/freebayes and SV callers)☆39Dec 3, 2017Updated 8 years ago
- Building the constrained coding regions (CCR) model☆16Dec 19, 2018Updated 7 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆22Aug 18, 2020Updated 6 years ago
- DNA kmer operations for nim☆14Apr 24, 2022Updated 4 years ago
- ☆13Aug 21, 2025Updated last year
- Deploy on Railway without the complexity - Free Credits Offer • AdConnect your repo and Railway handles the rest with instant previews. Quickly provision container image services, databases, and storage volumes.
- Detects human contamination in bam files☆16Sep 10, 2020Updated 6 years ago
- Sample Contamination Estimate from VCF☆21Updated this week
- Numerical Encoding for Human Genetic Variants☆43Jun 8, 2023Updated 3 years ago
- Detect novel (and reference) STR expansions from short-read data☆72Dec 6, 2025Updated 10 months ago
- ☆13Oct 26, 2018Updated 8 years ago
- significance testing over interval overlaps☆30Jul 11, 2020Updated 6 years ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆59Feb 17, 2022Updated 4 years ago
- High-level API for storing and querying sequence variant data☆20May 24, 2019Updated 7 years ago
- VETA - A simple tool do evaluate variant predictors☆11Jun 17, 2024Updated 2 years ago
- Open source password manager - Proton Pass • AdSecurely store, share, and autofill your credentials with Proton Pass, the end-to-end encrypted password manager trusted by millions.
- Interactive table from gemini output☆10Mar 5, 2019Updated 7 years ago
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆19May 9, 2024Updated 2 years ago
- The python binding for D4 format☆16Oct 22, 2021Updated 5 years ago
- Tissue-specific variant effect predictions on splicing☆44May 23, 2023Updated 3 years ago
- useful command-line tools written to showcase hts-nim☆50Nov 10, 2020Updated 5 years ago
- a tool for processing .bed and .vcf files☆21Apr 25, 2017Updated 9 years ago
- use the noise☆14Apr 15, 2020Updated 6 years ago
- HaploGrep - mtDNA haplogroup classification. Supporting rCRS and RSRS.☆79Feb 28, 2023Updated 3 years ago
- mtDNA Variant Caller☆36Dec 23, 2024Updated last year
- 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.
- Streaming relation (overlap, distance, KNN) of (any number of) sorted genomic interval sets. #golang☆46Jun 16, 2026Updated 4 months ago
- A small repo for storing the code for making the files and html for CCRs.☆22Oct 22, 2019Updated 7 years ago
- a wee tool for random access into BGZF files.☆86May 10, 2018Updated 8 years ago
- create a gemini-compatible database from a VCF☆55Jan 5, 2021Updated 5 years ago
- Shiny ClinVar web server source code☆13Apr 29, 2019Updated 7 years ago
- Example project for integrating igv.js and flask☆26May 17, 2025Updated last year
- prioritize effects of variant annotations from VEP, SnpEff, et al.☆35Sep 25, 2026Updated last month
- ☆14Jul 14, 2026Updated 3 months ago
- ☆18Jun 3, 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.
- Arioc: GPU-accelerated DNA short-read alignment☆70May 20, 2025Updated last year
- annotate a VCF with other VCFs/BEDs/tabixed files☆404Jun 16, 2026Updated 4 months ago
- The friendly Computational App Boilerplate. Django + Vue.JS + Redis queues + NginX☆22Jun 10, 2021Updated 5 years ago
- Code associated with 2019 manuscript entitled "Transcript expression-aware annotation improves rare variant discovery and interpretation…☆34May 5, 2022Updated 4 years ago
- A deletion finder through re-aligning the whole soft-clipping read☆12Jul 2, 2016Updated 10 years ago
- Retrieve data in genomic intervals with a Python interface for tabix.☆83Aug 10, 2017Updated 9 years ago
- efficient alignment of strings to partially ordered string graphs☆33Apr 22, 2026Updated 6 months ago