UCA-MSI / NiPTUNEView external linksLinks
NiPTUNE. A Python library for NIPT analyses.
☆12Nov 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
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 2 months ago
- ThermoFisher Ion Torrent plugin to detect fetal trisomies and estimate fetal fraction☆17Mar 23, 2018Updated 7 years ago
- Short reads aligner for NIPT/CNV☆16Oct 10, 2018Updated 7 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Nov 28, 2025Updated 2 months ago
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆17Mar 10, 2022Updated 3 years ago
- WISECONDOR (WIthin-SamplE COpy Number aberration DetectOR): Detect fetal trisomies and smaller CNV's in a maternal plasma sample using wh…☆47Apr 24, 2024Updated last year
- Pipeline to filter whole exome vcf files and generate a report document for clinical diagnostics.☆14Nov 11, 2019Updated 6 years ago
- WisecondorX — An evolved WISECONDOR☆112Nov 26, 2025Updated 2 months ago
- 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
- Browser-based tool for visualizing and analyzing germline copy number variants in genomic data☆10Nov 7, 2024Updated last year
- ☆11Aug 13, 2025Updated 6 months ago
- A fork of the project Excavator2 from sourceforge.☆10Jun 29, 2017Updated 8 years ago
- 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
- Bayesian-based fetal genotyping using maternal cell-free DNA and parental sequencing data.☆14Jun 5, 2019Updated 6 years ago
- A nextflow pipeline for calling and annotating small germline variants from short DNA reads for WES and WGS data☆13Updated this week
- A nextflow pipeline for calling exome CNVs☆13Updated this week
- Automated ACMG/AMP classification for human variants associated with congenital hearing loss☆11May 14, 2025Updated 9 months ago
- Shiny app for geno-pheno catalog☆11Nov 4, 2022Updated 3 years ago
- Web application for clinical pharmacogenomic interpretation☆10Mar 3, 2017Updated 8 years ago
- ☆11Apr 3, 2023Updated 2 years ago
- 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 4 months ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆75Sep 4, 2024Updated last year
- This is the official development repository for BaseVar, which call variants for large-scale ultra low-pass (<1.0x) WGS data, especially …☆27Jul 28, 2025Updated 6 months ago
- cfDNA Sequencing Pipeline with UMI☆11Dec 8, 2025Updated 2 months ago
- Bacterial typing pipeline for clinical NGS data. Written in NextFlow, Python & Bash.☆12Feb 6, 2026Updated last week
- A webtool for the clinical interpretation of CNVs in rare disease patients☆13Jun 10, 2022Updated 3 years ago
- Curated list of resources for variant prioritization☆12Nov 18, 2025Updated 2 months ago
- Clin.iobio - Workflow and reporting for iobio variant analysis pipeline☆12Oct 7, 2025Updated 4 months ago
- Clinical Variant Annotation Pipeline☆10Apr 21, 2020Updated 5 years ago
- A tool kit to manage many variant on desktop computer☆13Jan 13, 2026Updated last month
- ☆15Oct 10, 2023Updated 2 years ago
- SANEFALCON (Single reAds Nucleosome-basEd FetAL fraCtiON): Calculating the fetal fraction for noninvasive prenatal testing based on genom…☆14Jun 5, 2020Updated 5 years ago
- Glue between Clinical Genomics apps☆11Updated this week
- An R package for Standardized Summary, Annotation, Comparison, and Visualization of CNV, CNVR and ROH☆15Oct 17, 2021Updated 4 years ago
- CNV Rapid Aberration Detection And Reporting☆12Mar 2, 2021Updated 4 years ago
- Advanced plotting functions for CNV data generated by CNV-Seq and Control Freec☆13Aug 25, 2020Updated 5 years ago
- Aggregation and analyses of rare CNVs across diseases☆15Jan 25, 2023Updated 3 years ago