UCA-MSI / NiPTUNELinks
NiPTUNE. A Python library for NIPT analyses.
☆9Updated 3 years ago
Alternatives and similar repositories for NiPTUNE
Users that are interested in NiPTUNE are comparing it to the libraries listed below
Sorting:
- Bayesian-based fetal genotyping using maternal cell-free DNA and parental sequencing data.☆13Updated 6 years ago
- Short reads aligner for NIPT/CNV☆15Updated 6 years ago
- A fork of the project Excavator2 from sourceforge.☆10Updated 8 years ago
- Framework to benchmark algorithms when detecting germline copy number variations (CNVs) from NGS data☆14Updated 6 months ago
- Streamlined duo/trio analysis and pedigree haplotyping: from VCF to interactive HTML☆15Updated 8 months ago
- A webtool for the clinical interpretation of CNVs in rare disease patients☆12Updated 3 years ago
- Accucopy is a computational method that infers Allele-Specific Copy Number alterations from low-coverage low-purity tumor sequencing data…☆17Updated last year
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆29Updated last year
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆17Updated last year
- ThermoFisher Ion Torrent plugin to detect fetal trisomies and estimate fetal fraction☆16Updated 7 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- Official code repository for JAX-CNV☆12Updated 5 years ago
- CAVA (Clinical Annotation of VAriants)☆14Updated 6 years ago
- CNV detection tool for targeted NGS panel data☆16Updated 3 years ago
- Plot CNV data with a genome viewer in R☆15Updated 8 years ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 4 months ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Updated 2 years ago
- ☆12Updated 2 years ago
- Advanced plotting functions for CNV data generated by CNV-Seq and Control Freec☆13Updated 4 years ago
- PharmGKB NGS Pipeline☆17Updated 6 years ago
- Aggregation and analyses of rare CNVs across diseases☆14Updated 2 years ago
- R Package for Non Invasive Prenatal Testing (NIPT) analysis☆41Updated 5 years ago
- A pipeline for the identification of Compound Heterozygous Variants☆9Updated 2 years ago
- CNV Rapid Aberration Detection And Reporting☆12Updated 4 years ago
- Generic human DNA variant annotation pipeline☆58Updated last year
- Ultra-fast, high-performing structural variation (SV) detector☆23Updated 2 years ago
- 📊Evaluating, filtering, comparing, and visualising VCF☆28Updated 2 years ago
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆22Updated 2 years ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 7 years ago