deep residual neural network for classifying the pathogenicity of missense mutations.
☆115Aug 25, 2021Updated 4 years ago
Alternatives and similar repositories for PrimateAI
Users that are interested in PrimateAI are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- ☆74Mar 13, 2026Updated last month
- (WIP) best-practices workflow for rare disease☆62Jul 1, 2024Updated last year
- A tool for estimating repeat sizes☆208Jan 30, 2024Updated 2 years ago
- Suite of heritability and genetic correlation estimation tools for exome-sequencing data☆35Dec 5, 2025Updated 4 months ago
- ☆35Nov 1, 2021Updated 4 years ago
- Managed Kubernetes at scale on DigitalOcean • AdDigitalOcean Kubernetes includes the control plane, bandwidth allowance, container registry, automatic updates, and more for free.
- A deep learning-based tool to identify splice variants☆491Apr 3, 2026Updated last week
- ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.☆78Jun 30, 2025Updated 9 months ago
- A mosaic detecting software based on phasing and random forest☆70Dec 8, 2025Updated 4 months ago
- ☆18Jun 3, 2020Updated 5 years ago
- annotate a VCF with other VCFs/BEDs/tabixed files☆400Aug 30, 2025Updated 7 months ago
- Browser-based tool for visualizing and analyzing germline copy number variants in genomic data☆11Nov 7, 2024Updated last year
- predicting expression effects of human genome variants ab initio from sequence☆134Jan 28, 2025Updated last year
- CADD scripts release for offline scoring. For more information about CADD, please visit our website☆92Oct 30, 2025Updated 5 months ago
- Strelka2 germline and somatic small variant caller☆393Dec 29, 2021Updated 4 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.
- List of gene lists for genomic analyses.☆227Jun 24, 2022Updated 3 years ago
- The Ensembl Variant Effect Predictor predicts the functional effects of genomic variants☆542Updated this week
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆51Oct 14, 2023Updated 2 years ago
- Scalable gVCF merging and joint variant calling for population sequencing projects☆181Apr 12, 2024Updated 2 years ago
- Official code repository for JAX-CNV☆14Jan 16, 2020Updated 6 years ago
- Extract modifed base call information from Guppy Fast5 files.☆14Mar 28, 2022Updated 4 years ago
- Bayesian haplotype-based mutation calling☆323Feb 13, 2026Updated 2 months ago
- genetic variant expressions, annotation, and filtering for great good.☆274Dec 15, 2025Updated 4 months ago
- Javascript library for visualizing genomics data with D3.☆19Jan 6, 2017Updated 9 years ago
- Wordpress hosting with auto-scaling - Free Trial • AdFully Managed hosting for WordPress and WooCommerce businesses that need reliable, auto-scalable performance. Cloudways SafeUpdates now available.
- a framework for training sequence-level deep learning networks☆399Dec 16, 2024Updated last year
- 180+ Java applications for analyzing next generation sequencing data from ChIPSeq, RNASeq, BisSeq, DNASeq, variant annotation/ filtering,…☆18Feb 19, 2026Updated last month
- dv-trio provides a pipeline to call variants for a trio (father-mother-child) using DeepVariants [1]. Genomic Variant Calling Files (gVCF…☆11Feb 3, 2021Updated 5 years ago
- ☆13May 27, 2025Updated 10 months ago
- Extracting mutational signatures via LASSO. The manuscript of the method is published on PLOS Computational Biology and available at: htt…☆11Apr 7, 2026Updated last week
- Simple and efficient access to genomic data for deep learning models.☆42Jan 9, 2020Updated 6 years ago
- Detection of structural variants in cancer mate-pair and paired-end data☆13May 3, 2019Updated 6 years ago
- ☆29Feb 17, 2021Updated 5 years ago
- mutSignatures R package - updated (dev) version - 2.1.4☆14Jan 18, 2023Updated 3 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.
- Code and custom scripts relevant to gnomAD-SV (Collins*, Brand*, et al., 2020)☆37Jun 19, 2020Updated 5 years ago
- Classifier of pathogenic non-coding variants in Mendelian diseases☆11Feb 6, 2020Updated 6 years ago
- Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls☆210Mar 19, 2021Updated 5 years ago
- Efficient variant-call data storage and retrieval library using the TileDB storage library.☆106Updated this week
- A method of assessing sequence complexity based on kmer frequencies☆33Apr 9, 2018Updated 8 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Mar 10, 2018Updated 8 years ago
- 肿瘤突变负荷学习笔记(tumor mutation burden)☆16Dec 10, 2019Updated 6 years ago