A variant caller for the GBA gene using WGS data
☆23Jul 31, 2024Updated 2 years ago
Alternatives and similar repositories for Gauchian
Users that are interested in Gauchian are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Feb 20, 2026Updated 8 months ago
- Kmer based genotyper for short reads.☆23Oct 19, 2021Updated 5 years ago
- Hidden Markov Model based Copy number caller☆20Jul 18, 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 6 months ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆42Oct 28, 2026Updated last week
- 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.
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆51Oct 14, 2023Updated 3 years ago
- A tool to genotype CYP2D6 with WGS data☆63Oct 14, 2023Updated 3 years ago
- Sample Contamination Estimate from VCF☆21Oct 23, 2026Updated 2 weeks ago
- ☆20Nov 30, 2023Updated 2 years ago
- A structural variant filtering and prioritization tool for long-read sequencing data☆49Aug 26, 2026Updated 2 months ago
- ☆13Jun 21, 2017Updated 9 years ago
- Structural variant (SV) analysis tools☆42Jul 1, 2024Updated 2 years ago
- An Artificial Neural Network-based discriminator for validating clinically significant genomic variants☆35Dec 25, 2023Updated 2 years ago
- Deep learning-based structural variant filtering method☆40Nov 19, 2023Updated 2 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.
- A tool that lets you quickly flip through images in a local directory and record notes or answer questions about each one.☆23Jul 23, 2026Updated 3 months ago
- A tool for diagnosing SMA in exome, genome or targeted sequencing data☆14Jul 1, 2026Updated 4 months ago
- MrMosaic (Genomic Mosaic Structural Variant Caller)☆15Jul 21, 2017Updated 9 years ago
- De novo tandem repeat calling from PacBio HiFi data☆19Oct 1, 2026Updated last month
- A VCF comparison engine for structual variant benchmarking☆24Sep 26, 2025Updated last year
- A machine learning tool to predict tandem repeat pathogenicity☆12Jan 2, 2024Updated 2 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
- A suite of tools for detecting expansions of short tandem repeats☆86Jul 6, 2023Updated 3 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.
- PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.☆18Feb 11, 2025Updated last year
- RCK: Reconstruction of clone- and haplotype-specific Cancer Karyotypes☆19Apr 2, 2020Updated 6 years ago
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆39Mar 25, 2026Updated 7 months ago
- Human mitochondrial variants annotation using HmtVar.☆18Oct 16, 2023Updated 3 years ago
- Hail batch pipeline to run SAIGE on CPG's GCP☆12Oct 16, 2025Updated last year
- Tool to find regions of homozygosity (ROHs) from sequencing data.☆37Jun 17, 2024Updated 2 years ago
- VCF files of SVs using long-read sequencing (LRS).☆22Dec 17, 2021Updated 4 years ago
- VEP Plugin to annotate high-impact five prime UTR variants☆30Aug 23, 2024Updated 2 years ago
- ♥ Essential Functions for DNA Manipulation☆20Jun 15, 2025Updated last year
- 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.
- ☆36Mar 2, 2021Updated 5 years ago
- Expanded STR algorithm for Illumina sequencing data☆24Sep 11, 2022Updated 4 years ago
- NGS duplicate marking☆20Apr 6, 2021Updated 5 years ago
- A framework to annotate SVs with previous known SVs (vcf file) and or with genomic features (gff and or bed files)☆13Mar 12, 2018Updated 8 years ago
- Kmer Analysis of Pileups for Genotyping☆44Jul 16, 2026Updated 3 months ago
- BWA-MEM program accelerated with the GASAL2 library☆19Sep 2, 2019Updated 7 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆28Jun 6, 2024Updated 2 years ago