PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.
☆18Feb 11, 2025Updated last year
Alternatives and similar repositories for PhenoSV
Users that are interested in PhenoSV are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- A Mendelian approach to variant effect prediction built in keras☆22Aug 22, 2026Updated 2 months ago
- POSTRE: Prediction Of STRuctural variant Effects☆31Sep 3, 2026Updated last month
- Functional-trained variant effect predictor☆18Aug 27, 2026Updated 2 months ago
- Fast, self-contained VCF to MAF converter with embedded annotation (Rust rewrite of vcf2maf)☆26Oct 12, 2026Updated 2 weeks ago
- Pathogenicity prediction and prioritization of genetic variants.☆20Sep 21, 2026Updated last month
- Proton VPN Special Offer - Get 70% off • AdSpecial partner offer. Trusted by over 100 million users worldwide. Tested, Approved and Recommended by Experts.
- ☆16Jan 10, 2022Updated 4 years ago
- Annotate non-coding regulatory vars using our GREEN-DB, prediction scores, conservation and pop AF☆21Jun 13, 2025Updated last year
- Structural variant VCF annotation, filtering, duplicate removal and comparison☆38Sep 3, 2026Updated last month
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆42May 19, 2026Updated 5 months ago
- ☆47Jul 16, 2026Updated 3 months ago
- CNV Rapid Aberration Detection And Reporting☆13Mar 2, 2021Updated 5 years ago
- A python wrapper around SURVIVOR☆20Feb 15, 2024Updated 2 years ago
- add true-negative SVs from a population callset to a truth-set.☆14Jun 17, 2022Updated 4 years ago
- convert alignment bam to pairwise alignment or multiple sequence alignment (msa) at genome specific region☆13May 21, 2024Updated 2 years 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.
- The fastest VCF/BCF parser in R https://doi.org/10.1093/bioinformatics/btae049☆22Aug 10, 2026Updated 2 months ago
- Toolkit for calling structural variants using short or long reads☆120Aug 21, 2026Updated 2 months ago
- Translocator: local realignment and global remapping enabling accurate translocation detection using single-molecule sequencing long read…☆12Jan 22, 2020Updated 6 years ago
- API-first variant triage pipeline combining genomic filtering, annotation, and LLM-driven interpretation for clinical genomics workflows☆21Apr 28, 2026Updated 6 months ago
- prioritize effects of variant annotations from VEP, SnpEff, et al.☆35Sep 25, 2026Updated last month
- Automated human exome/genome variants detection from FASTQ files☆23Sep 27, 2021Updated 5 years ago
- Blazingly fast, streaming duplicate detection for NGS data☆22Oct 22, 2026Updated last week
- Hidden Markov Model based Copy number caller☆20Jul 18, 2026Updated 3 months ago
- Pan gGnome Viewer☆10Sep 24, 2026Updated last month
- Serverless GPU API endpoints on Runpod - Get Bonus Credits • AdSkip the infrastructure headaches. Auto-scaling, pay-as-you-go, no-ops approach lets you focus on innovating your application.
- An statistical approach leveraging segments of distinct ancestries within individuals to estimate similarity in underlying causal effect …☆13Sep 27, 2024Updated 2 years ago
- STRspy: a novel alignment and quantification-based state-of-the-art method, short tandem repeat (STR) detection calling tool designed spe…☆18May 4, 2026Updated 5 months ago
- A tool kit to manage many variant on desktop computer☆13Jan 13, 2026Updated 9 months ago
- WASP2: High-performance allele-specific analysis pipeline for next-generation sequencing data☆12Updated this week
- Improved structural variant discovery in accurate long reads using sample-specific strings (SFS)☆49Apr 20, 2026Updated 6 months ago
- Non-parametric structural variant genotyper☆15Nov 18, 2021Updated 4 years ago
- ☆19Mar 14, 2022Updated 4 years ago
- Tools to gather evidence for structural variation via breakpoint detection.☆20Mar 27, 2026Updated 7 months ago
- Kmer based genotyper for short reads.☆23Oct 19, 2021Updated 5 years 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.
- Pipeline for processing and analyzing CiFi data☆12Sep 24, 2026Updated last month
- A structural variant filtering and prioritization tool for long-read sequencing data☆46Aug 26, 2026Updated 2 months ago
- Kmer Analysis of Pileups for Genotyping☆43Jul 16, 2026Updated 3 months ago
- A variant caller for the GBA gene using WGS data☆23Jul 31, 2024Updated 2 years ago
- Inferring admixture proportions from NGS data☆13Oct 15, 2026Updated 2 weeks ago
- Generate an enhanced VCF files from ClinVar XML Full releases☆17Jul 21, 2026Updated 3 months ago
- A bioinformatics best-practice analysis pipeline for the analysis of shallow whole genome sequencing (sWGS) data for the identification o…☆20Jul 15, 2026Updated 3 months ago