Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity
☆18Mar 10, 2022Updated 4 years ago
Alternatives and similar repositories for DeepSVP
Users that are interested in DeepSVP are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- Clinical Variant Annotation Pipeline☆10Apr 21, 2020Updated 6 years ago
- 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
- Sniphles is a read-based phasing approach for phased variant calling of structural variants.☆12Oct 14, 2020Updated 6 years ago
- ☆16Jan 10, 2022Updated 4 years ago
- For more details about Mobster please see☆10Dec 7, 2022Updated 3 years ago
- Managed Database hosting by DigitalOcean • AdPostgreSQL, MySQL, MongoDB, Kafka, Valkey, and OpenSearch available. Automatically scale up storage and focus on building your apps.
- Scripts and utilities for automatic processing & management of Illumina NGS sequencing data within the Bioinformatics Core Facility at th…☆10Updated this week
- Updated figures for "A benchmarking of WGS-based structural variant callers" paper☆27Apr 3, 2022Updated 4 years ago
- Cool Bioinformatics Scripts☆12May 21, 2024Updated 2 years ago
- do some exercise☆15Dec 2, 2025Updated 11 months ago
- ultrafast structural variation detection from circular consensus sequencing reads☆13Mar 8, 2022Updated 4 years ago
- Generate an enhanced VCF files from ClinVar XML Full releases☆18Jul 21, 2026Updated 3 months ago
- A versatile pairwise aligner for genomic and spliced nucleotide sequences☆10Dec 21, 2022Updated 3 years ago
- Preprocessing sequencing data for allele-specific analysis☆14Sep 10, 2026Updated last month
- Run multiple programs to check if a VCF is usable☆11May 15, 2020Updated 6 years ago
- Deploy on Railway without the complexity - Free Credits Offer • AdConnect your repo and Railway handles the rest with instant previews. Quickly provision container image services, databases, and storage volumes.
- SV genotyping with long reads☆41Jul 3, 2023Updated 3 years ago
- Analyzing sketching and sampling approaches for fast and accurate read classification☆10Aug 30, 2022Updated 4 years ago
- Viola is a flexible and powerful python package designed specifically for analysis of genomic structural variant (SV) signatures.☆28Jul 26, 2024Updated 2 years ago
- Calling deletions using deep convolutional neural☆26Feb 12, 2020Updated 6 years ago
- NiPTUNE. A Python library for NIPT analyses.☆11Nov 22, 2021Updated 4 years ago
- Lightweight mosaic/somatic SV caller for long reads (WIP)☆39Oct 27, 2025Updated last year
- Official code repository for JAX-CNV☆14Jan 16, 2020Updated 6 years ago
- Pipeline to filter whole exome vcf files and generate a report document for clinical diagnostics.☆14Nov 11, 2019Updated 6 years ago
- ☆20Nov 30, 2023Updated 2 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.
- SV genotyper for long reads with a variation graph☆17Sep 28, 2026Updated last month
- Hidden Markov Model based Copy number caller☆20Jul 18, 2026Updated 3 months ago
- Deep learning framework for SV calling and genotyping☆117Nov 8, 2023Updated 2 years ago
- ☆11Apr 20, 2018Updated 8 years ago
- quick qc on long-read alignment files. Show read-length and depth distributions☆23Apr 24, 2026Updated 6 months ago
- A Snakemake pipeline for Quality Control of Whole Genome Sequencing data☆14Jan 18, 2022Updated 4 years ago
- ☆11Apr 3, 2023Updated 3 years ago
- Alignment-free detection of structural variations and viral integrations in circulating tumor DNA☆17Nov 11, 2021Updated 4 years ago
- A tool kit to manage many variant on desktop computer☆13Updated this week
- 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.
- Bacterial typing pipeline for clinical NGS data. Written in NextFlow, Python & Bash.☆17Oct 30, 2026Updated last week
- Functional-trained variant effect predictor☆19Aug 27, 2026Updated 2 months ago
- perSVade: personalized Structural Variation detection☆42Apr 2, 2026Updated 7 months ago
- Codes for the Iso-Seq variant-calling paper☆11Apr 28, 2023Updated 3 years ago
- Phased structural variant discovery in pangenomes☆44Oct 9, 2026Updated 3 weeks ago
- An Artificial Neural Network-based discriminator for validating clinically significant genomic variants☆35Dec 25, 2023Updated 2 years ago
- MEM mapper prototype☆13Nov 28, 2020Updated 5 years ago