A pipeline for the identification of Compound Heterozygous Variants
☆10Nov 10, 2022Updated 3 years ago
Alternatives and similar repositories for CompoundHetVIP
Users that are interested in CompoundHetVIP are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- A complete suite of tools to work with genomic variation data, from VCF tools to variant profiling or genomic statistics☆14Feb 12, 2016Updated 10 years ago
- Short reads aligner for NIPT/CNV☆16Oct 10, 2018Updated 7 years ago
- R Package for Non Invasive Prenatal Testing (NIPT) analysis☆46Nov 5, 2019Updated 6 years ago
- ☆20Jul 28, 2025Updated 11 months ago
- TAPES : a Tool for Assessment and Prioritisation in Exome Studies☆26Jun 22, 2026Updated last 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.
- This is the official development repository for BaseVar, which call variants for large-scale ultra low-pass (<1.0x) WGS data, especially …☆28May 28, 2026Updated last month
- A list of cool software for genetic analysis and the like☆12Sep 21, 2018Updated 7 years ago
- Multiple Genome Viewer☆12Sep 16, 2025Updated 9 months ago
- A nextflow pipeline for calling exome CNVs☆14Jun 22, 2026Updated last week
- 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
- SANEFALCON (Single reAds Nucleosome-basEd FetAL fraCtiON): Calculating the fetal fraction for noninvasive prenatal testing based on genom…☆14Jun 5, 2020Updated 6 years ago
- URMAP ultra-fast read mapper☆38Jun 15, 2020Updated 6 years ago
- 自己项目整理的目录文件,方便查找,持续更新中☆20Jul 27, 2019Updated 6 years ago
- BAMixChecker: A fast and efficient tool for sample matching checkup☆16Jun 12, 2022Updated 4 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.
- R Warrior - R implemention of Ruby Warrior☆10Sep 18, 2022Updated 3 years ago
- Advanced plotting functions for CNV data generated by CNV-Seq and Control Freec☆13Aug 25, 2020Updated 5 years ago
- A nextflow pipeline for calling and annotating small germline variants from short DNA reads for WES and WGS data☆13Jun 17, 2026Updated 2 weeks ago
- Clin.iobio - Workflow and reporting for iobio variant analysis pipeline☆12Oct 7, 2025Updated 8 months ago
- Automated ACMG/AMP classification for human variants associated with congenital hearing loss☆11May 14, 2025Updated last year
- FusionAnnotator source code☆16Feb 27, 2026Updated 4 months ago
- ☆16Jan 10, 2022Updated 4 years ago
- Crossmapped phenotype ontologies for the oncology domain☆16Jun 6, 2026Updated 3 weeks ago
- Official code repository for JAX-CNV☆14Jan 16, 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.
- Bacterial typing pipeline for clinical NGS data. Written in NextFlow, Python & Bash.☆14Jun 24, 2026Updated last week
- NiPTUNE. A Python library for NIPT analyses.☆11Nov 22, 2021Updated 4 years ago
- Curated list of resources for variant prioritization☆15Nov 18, 2025Updated 7 months ago
- Linkage disequlibrium-informed PGT-A (LD-PGTA). A package for detecting genotypic signatures of aneuploidy from extremely low-coverage se…☆18Oct 10, 2022Updated 3 years ago
- Seave is a web platform that enables genetic variants to be easily filtered and annotated with in silico pathogenicity prediction scores …☆17Aug 9, 2018Updated 7 years ago
- Readme☆10Mar 15, 2020Updated 6 years ago
- Optimised pipeline to process whole genome sequence data from fastq to BAM on NCI Gadi☆21Jan 28, 2025Updated last year
- ☆15Feb 6, 2021Updated 5 years ago
- Scripts for analyses and figures for SNP STR Imputation manuscript☆14Jul 24, 2018Updated 7 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.
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆18Mar 10, 2022Updated 4 years ago
- do some exercise☆15Dec 2, 2025Updated 7 months ago
- Variant annotation and merging pipeline☆43Jul 22, 2025Updated 11 months ago
- Bitscopic Interpreting ACMG Standards 2015☆33Mar 10, 2026Updated 3 months ago
- Scripts for Hill et al. (2022) doi:10.1093/molbev/msac085 🟣☆11Apr 28, 2023Updated 3 years ago
- Software for detecting transposable element insertions from next-generation sequencing data☆14Mar 12, 2021Updated 5 years ago
- Python Primer Design Library☆14Mar 27, 2026Updated 3 months ago