R Package for Non Invasive Prenatal Testing (NIPT) analysis
☆46Nov 5, 2019Updated 6 years ago
Alternatives and similar repositories for NIPTeR
Users that are interested in NIPTeR are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- NiPTUNE. A Python library for NIPT analyses.☆11Nov 22, 2021Updated 4 years 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 4 years 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
- A pipeline for the identification of Compound Heterozygous Variants☆10Nov 10, 2022Updated 3 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.
- WISECONDOR (WIthin-SamplE COpy Number aberration DetectOR): Detect fetal trisomies and smaller CNV's in a maternal plasma sample using wh…☆46Apr 24, 2024Updated 2 years ago
- Bayesian-based fetal genotyping using maternal cell-free DNA and parental sequencing data.☆14Jun 5, 2019Updated 7 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
- PREFACE -- PREdict FetAl ComponEnt☆15Jan 2, 2026Updated 6 months ago
- (No maintenance) Detect gene fusion directly from raw fastq files☆25Aug 13, 2017Updated 8 years ago
- Official code repository for JAX-CNV☆14Jan 16, 2020Updated 6 years ago
- do some exercise☆15Dec 2, 2025Updated 7 months ago
- CircSplice☆11Feb 27, 2019Updated 7 years ago
- Collection of notes and scripts related to NGS☆14Feb 18, 2026Updated 5 months ago
- Serverless GPU API endpoints on Runpod - Get Bonus Credits • AdSkip the infrastructure headaches. Auto-scaling, pay-as-you-go, no-ops approach lets you focus on innovating your application.
- ☆14Dec 13, 2023Updated 2 years ago
- Pipeline to filter whole exome vcf files and generate a report document for clinical diagnostics.☆14Nov 11, 2019Updated 6 years ago
- 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
- WisecondorX — An evolved WISECONDOR☆116Jul 1, 2026Updated 3 weeks ago
- Deduplication for cfDNA sequencing data☆11Jul 5, 2017Updated 9 years ago
- Full-spectrum copy number variation detection by high-throughput DNA sequencing☆43Aug 17, 2021Updated 4 years ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆99Apr 20, 2026Updated 3 months ago
- VCF-Miner: A graphical user interface for sorting, filtering and querying annotated VCF Files☆37Nov 19, 2019Updated 6 years ago
- Updated figures for "A benchmarking of WGS-based structural variant callers" paper☆27Apr 3, 2022Updated 4 years ago
- GPUs on demand by Runpod - Special Offer Available • AdRun AI, ML, and HPC workloads on powerful cloud GPUs—without limits or wasted spend. Deploy GPUs in under a minute and pay by the second.
- Detecting somatic mutations and predicting tumor-specific neo-antigens☆29Aug 10, 2021Updated 4 years ago
- detection of mutations causing splicing change☆13Oct 6, 2022Updated 3 years ago
- phenotype-based prioritization of candidate genes for human diseases☆64Jan 25, 2023Updated 3 years ago
- Browser-based tool for visualizing and analyzing germline copy number variants in genomic data☆12Nov 7, 2024Updated last year
- Pipeline for Illumina shotgun sequencing of 16S rRNA amplicon sequences☆14Sep 2, 2016Updated 9 years ago
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆18Mar 10, 2022Updated 4 years ago
- genome basic statistics tool (e.g. n50, n10, ng50,...)☆15Mar 5, 2012Updated 14 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Feb 20, 2026Updated 5 months ago
- Example client programs for Saphetor's VarSome annotation API☆37Jun 17, 2026Updated last month
- Simple, predictable pricing with DigitalOcean hosting • AdAlways know what you'll pay with monthly caps and flat pricing. Enterprise-grade infrastructure trusted by 600k+ customers.
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆44Jun 18, 2026Updated last month
- a lightweight bam file depth statistical tool☆163Jul 2, 2026Updated 2 weeks ago
- Advanced plotting functions for CNV data generated by CNV-Seq and Control Freec☆13Aug 25, 2020Updated 5 years ago
- BAMixChecker: A fast and efficient tool for sample matching checkup☆16Jun 12, 2022Updated 4 years ago
- Processing and analysis of data coming from Illumina sequencing machines☆11Jul 10, 2026Updated last week
- A fast lossless FASTQ compressor with ultra-high compression ratio☆152May 28, 2025Updated last year
- Software for hybridization capture bait design☆11Jun 12, 2026Updated last month