NiPTUNE. A Python library for NIPT analyses.
☆11Nov 22, 2021Updated 4 years ago
Alternatives and similar repositories for NiPTUNE
Users that are interested in NiPTUNE are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- R Package for Non Invasive Prenatal Testing (NIPT) analysis☆46Nov 5, 2019Updated 6 years ago
- Official code repository for JAX-CNV☆14Jan 16, 2020Updated 6 years ago
- do some exercise☆14Dec 2, 2025Updated 3 months ago
- Short reads aligner for NIPT/CNV☆16Oct 10, 2018Updated 7 years ago
- ThermoFisher Ion Torrent plugin to detect fetal trisomies and estimate fetal fraction☆17Mar 23, 2018Updated 8 years 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.
- 用每个窗口的read数作为特征、胎儿浓度作为标签，训练神经网络模型；训练完成的神经网络模型可用于NIPT胎儿浓度的预测☆11Jun 10, 2022Updated 3 years ago
- Pipeline to filter whole exome vcf files and generate a report document for clinical diagnostics.☆14Nov 11, 2019Updated 6 years ago
- Browser-based tool for visualizing and analyzing germline copy number variants in genomic data☆11Nov 7, 2024Updated last year
- WISECONDOR (WIthin-SamplE COpy Number aberration DetectOR): Detect fetal trisomies and smaller CNV's in a maternal plasma sample using wh…☆46Apr 24, 2024Updated last year
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Feb 20, 2026Updated last month
- WisecondorX — An evolved WISECONDOR☆113Updated this week
- ☆10Mar 23, 2026Updated last week
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆17Mar 10, 2022Updated 4 years ago
- Web application for clinical pharmacogenomic interpretation☆10Mar 3, 2017Updated 9 years 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.
- NIPT-human-genetics is a semi-automated workflow designed for the analysis of large-scale ultra-low-pass non-invasive prenatal test (NIPT…☆13Sep 22, 2025Updated 6 months ago
- ☆15Oct 10, 2023Updated 2 years ago
- PREFACE -- PREdict FetAl ComponEnt☆15Jan 2, 2026Updated 2 months ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆75Sep 4, 2024Updated last year
- SANEFALCON (Single reAds Nucleosome-basEd FetAL fraCtiON): Calculating the fetal fraction for noninvasive prenatal testing based on genom…☆14Jun 5, 2020Updated 5 years ago
- A new tool to infer sex from massively parallel sequencing data.☆17May 16, 2025Updated 10 months ago
- Shiny app for geno-pheno catalog☆11Nov 4, 2022Updated 3 years ago
- A nextflow pipeline for calling exome CNVs☆13Feb 24, 2026Updated last month
- Python 3 library with good support for both reading and writing VCF☆111Oct 2, 2025Updated 5 months ago
- Managed Database hosting by DigitalOcean • AdPostgreSQL, MySQL, MongoDB, Kafka, Valkey, and OpenSearch available. Automatically scale up storage and focus on building your apps.
- 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
- Glue between Clinical Genomics apps☆11Updated this week
- PAnno is a Pharmacogenomics Annotation tool for clinical genomic testing.☆16Dec 28, 2022Updated 3 years ago
- This is the official development repository for BaseVar, which call variants for large-scale ultra low-pass (<1.0x) WGS data, especially …☆28Jul 28, 2025Updated 8 months ago
- cfSNV: An R tool of sensitively detecting tumor mutations from cell-free DNA in blood☆14Apr 29, 2023Updated 2 years ago
- Curated list of resources for variant prioritization☆14Nov 18, 2025Updated 4 months ago
- A fork of the project Excavator2 from sourceforge.☆10Jun 29, 2017Updated 8 years ago
- Basic UPD caller☆12Aug 23, 2021Updated 4 years ago
- An R package for Standardized Summary, Annotation, Comparison, and Visualization of CNV, CNVR and ROH☆15Oct 17, 2021Updated 4 years ago
- NordVPN Special Discount Offer • AdSave on top-rated NordVPN 1 or 2-year plans with secure browsing, privacy protection, and support for for all major platforms.
- A nextflow pipeline for calling and annotating small germline variants from short DNA reads for WES and WGS data☆13Mar 23, 2026Updated last week
- Clin.iobio - Workflow and reporting for iobio variant analysis pipeline☆12Oct 7, 2025Updated 5 months ago
- Bayesian-based fetal genotyping using maternal cell-free DNA and parental sequencing data.☆14Jun 5, 2019Updated 6 years ago
- Automated ACMG/AMP classification for human variants associated with congenital hearing loss☆11May 14, 2025Updated 10 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
- Bacterial typing pipeline for clinical NGS data. Written in NextFlow, Python & Bash.☆13Updated this week
- ☆16Jan 5, 2018Updated 8 years ago