PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.
☆17Feb 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:
- POSTRE: Prediction Of STRuctural variant Effects☆28Jan 9, 2026Updated 3 months ago
- A Mendelian approach to variant effect prediction built in keras☆20Nov 3, 2025Updated 5 months ago
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆39Nov 28, 2025Updated 4 months ago
- CNV Rapid Aberration Detection And Reporting☆12Mar 2, 2021Updated 5 years ago
- convert alignment bam to pairwise alignment or multiple sequence alignment (msa) at genome specific region☆13May 21, 2024Updated last year
- Managed hosting for WordPress and PHP on Cloudways • AdManaged hosting with the flexibility to host WordPress, Magento, Laravel, or PHP apps, on multiple cloud providers. Cloudways by DigitalOcean.
- Translocator: local realignment and global remapping enabling accurate translocation detection using single-molecule sequencing long read…☆12Jan 22, 2020Updated 6 years ago
- Code and Tutorials for Running the MArginal ePIstasis Test (MAPIT)☆19Nov 29, 2022Updated 3 years ago
- Structural variant VCF annotation, duplicate removal and comparison☆37Oct 14, 2025Updated 5 months 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)☆49Sep 2, 2025Updated 7 months ago
- STRspy: a novel alignment and quantification-based state-of-the-art method, short tandem repeat (STR) detection calling tool designed spe…☆18Updated this week
- ☆16Jan 10, 2022Updated 4 years ago
- Non-parametric structural variant genotyper☆15Nov 18, 2021Updated 4 years ago
- Pan gGnome Viewer☆10Jul 10, 2025Updated 9 months 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.
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆17Mar 10, 2022Updated 4 years ago
- RCK: Reconstruction of clone- and haplotype-specific Cancer Karyotypes☆18Apr 2, 2020Updated 6 years ago
- ☆45Sep 10, 2024Updated last year
- The fastest VCF/BCF parser in R https://doi.org/10.1093/bioinformatics/btae049☆20Mar 31, 2026Updated last week
- Toolkit for VNTR genotyping and repeat-pan genome graph construction☆32Aug 18, 2025Updated 7 months ago
- Annotate non-coding regulatory vars using our GREEN-DB, prediction scores, conservation and pop AF☆20Jun 13, 2025Updated 9 months ago
- A tool to analyze telomeric reads from WGS or telobait-capture long-read sequencing data☆10Oct 1, 2024Updated last year
- A tool kit to manage many variant on desktop computer☆13Jan 13, 2026Updated 2 months ago
- A set of tools to annotate VCF files with expression and readcount data☆30Jan 30, 2026Updated 2 months ago
- Wordpress hosting with auto-scaling on Cloudways • AdFully Managed hosting built for WordPress-powered businesses that need reliable, auto-scalable hosting. Cloudways SafeUpdates now available.
- 🧬 High-performance VCF file parser and reformatter with VEP annotation support. Converts complex VCF files to analyzable TSV format …☆45Aug 15, 2025Updated 7 months ago
- A nextflow pipeline for calling exome CNVs☆13Feb 24, 2026Updated last month
- Rails application for storing and parsing clinical exome VCF files. Gene annotations can be retrieved via Biomart integration from Ensemb…☆10May 7, 2017Updated 8 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
- ☆11Oct 11, 2024Updated last year
- Telomerecat: The telomere computational analysis tool☆22Aug 4, 2021Updated 4 years ago
- add true-negative SVs from a population callset to a truth-set.☆14Jun 17, 2022Updated 3 years ago
- Easy genomic regions for short-read variant calling☆46Sep 10, 2025Updated 7 months ago
- SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …☆57Mar 25, 2026Updated 2 weeks ago
- 1-Click AI Models by DigitalOcean Gradient • AdDeploy popular AI models on DigitalOcean Gradient GPU virtual machines with just a single click and start building anything your business needs.
- Curated list of resources for variant prioritization☆14Nov 18, 2025Updated 4 months ago
- Run multiple programs to check if a VCF is usable☆11May 15, 2020Updated 5 years ago
- A nextflow pipeline for calling and annotating small germline variants from short DNA reads for WES and WGS data☆13Mar 30, 2026Updated last week
- Clin.iobio - Workflow and reporting for iobio variant analysis pipeline☆12Oct 7, 2025Updated 6 months ago
- VEP-like tool for sequence ontology and HGVS annotation of VCF files☆27Apr 3, 2026Updated last week
- Automated ACMG/AMP classification for human variants associated with congenital hearing loss☆11May 14, 2025Updated 10 months ago
- ☆26Dec 9, 2022Updated 3 years ago