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:
- Fast, self-contained VCF to MAF converter with embedded annotation (Rust rewrite of vcf2maf)☆18Jun 23, 2026Updated last month
- POSTRE: Prediction Of STRuctural variant Effects☆29Jun 1, 2026Updated 2 months ago
- A Mendelian approach to variant effect prediction built in keras☆21Nov 3, 2025Updated 9 months ago
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆40May 19, 2026Updated 2 months ago
- CNV Rapid Aberration Detection And Reporting☆12Mar 2, 2021Updated 5 years ago
- GPUs on demand by Runpod - Special Offer Available • AdRun AI, ML, and HPC workloads on powerful cloud GPUs—without limits or wasted spend. Deploy GPUs in under a minute and pay by the second.
- convert alignment bam to pairwise alignment or multiple sequence alignment (msa) at genome specific region☆13May 21, 2024Updated 2 years ago
- Translocator: local realignment and global remapping enabling accurate translocation detection using single-molecule sequencing long read…☆12Jan 22, 2020Updated 6 years ago
- Automated human exome/genome variants detection from FASTQ files☆23Sep 27, 2021Updated 4 years ago
- Improved structural variant discovery in accurate long reads using sample-specific strings (SFS)☆49Apr 20, 2026Updated 3 months 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 3 months ago
- Non-parametric structural variant genotyper☆15Nov 18, 2021Updated 4 years ago
- API-first variant triage pipeline combining genomic filtering, annotation, and LLM-driven interpretation for clinical genomics workflows☆20Apr 28, 2026Updated 3 months ago
- Pan gGnome Viewer☆10Jul 10, 2025Updated last year
- ☆16Jan 10, 2022Updated 4 years ago
- Proton VPN Special Offer - Get 70% off • AdSpecial partner offer. Trusted by over 100 million users worldwide. Tested, Approved and Recommended by Experts.
- A tool kit to manage many variant on desktop computer☆13Jan 13, 2026Updated 6 months ago
- RCK: Reconstruction of clone- and haplotype-specific Cancer Karyotypes☆19Apr 2, 2020Updated 6 years ago
- The fastest VCF/BCF parser in R https://doi.org/10.1093/bioinformatics/btae049☆20Mar 31, 2026Updated 4 months ago
- ☆44Jul 16, 2026Updated 3 weeks ago
- ATaRVa - Analysis of Tandem Repeat Variation☆25Jul 30, 2026Updated last week
- A tool to analyze telomeric reads from WGS or telobait-capture long-read sequencing data☆10Oct 1, 2024Updated last year
- Annotate non-coding regulatory vars using our GREEN-DB, prediction scores, conservation and pop AF☆21Jun 13, 2025Updated last year
- A set of tools to annotate VCF files with expression and readcount data☆31Updated this week
- Structural variant VCF annotation, duplicate removal and comparison☆38Oct 14, 2025Updated 9 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.
- Code and Tutorials for Running the MArginal ePIstasis Test (MAPIT)☆20Nov 29, 2022Updated 3 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
- A pipeline for the identification of Compound Heterozygous Variants☆10Nov 10, 2022Updated 3 years ago
- ☆12Oct 11, 2024Updated last year
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆18Mar 10, 2022Updated 4 years ago
- VCF files of SVs using long-read sequencing (LRS).☆22Dec 17, 2021Updated 4 years ago
- Copycat is a simple script to capture and bin the read coverage across a genome from a bam file of read alignments. It relies on bedtoo…☆17Aug 24, 2016Updated 9 years ago
- Telomerecat: The telomere computational analysis tool☆22Aug 4, 2021Updated 5 years ago
- add true-negative SVs from a population callset to a truth-set.☆14Jun 17, 2022Updated 4 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.
- SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …☆60Jul 27, 2026Updated 2 weeks ago
- Curated list of resources for variant prioritization☆15Nov 18, 2025Updated 8 months ago
- Run multiple programs to check if a VCF is usable☆11May 15, 2020Updated 6 years ago
- 🧬 High-performance VCF file parser and reformatter with VEP annotation support. Converts complex VCF files to analyzable TSV format …☆48Aug 15, 2025Updated 11 months ago
- A nextflow pipeline for calling and annotating small germline variants from short DNA reads for WES and WGS data☆13Updated this week
- Clin.iobio - Workflow and reporting for iobio variant analysis pipeline☆12Oct 7, 2025Updated 10 months ago
- Automated ACMG/AMP classification for human variants associated with congenital hearing loss☆11May 14, 2025Updated last year