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
Sorting:
- NiPTUNE. A Python library for NIPT analyses.☆12Nov 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 3 years ago
- Short reads aligner for NIPT/CNV☆16Oct 10, 2018Updated 7 years ago
- Bayesian-based fetal genotyping using maternal cell-free DNA and parental sequencing data.☆14Jun 5, 2019Updated 6 years ago
- ThermoFisher Ion Torrent plugin to detect fetal trisomies and estimate fetal fraction☆17Mar 23, 2018Updated 7 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
- SANEFALCON (Single reAds Nucleosome-basEd FetAL fraCtiON): Calculating the fetal fraction for noninvasive prenatal testing based on genom…☆14Jun 5, 2020Updated 5 years ago
- Official code repository for JAX-CNV☆14Jan 16, 2020Updated 6 years ago
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆17Mar 10, 2022Updated 3 years ago
- do some exercise☆14Dec 2, 2025Updated 3 months ago
- Pipeline to filter whole exome vcf files and generate a report document for clinical diagnostics.☆14Nov 11, 2019Updated 6 years ago
- PREFACE -- PREdict FetAl ComponEnt☆15Jan 2, 2026Updated 2 months ago
- 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 7 months ago
- genome basic statistics tool (e.g. n50, n10, ng50,...)☆15Mar 5, 2012Updated 13 years ago
- (No maintenance) Detect gene fusion directly from raw fastq files☆25Aug 13, 2017Updated 8 years ago
- ☆14Dec 13, 2023Updated 2 years ago
- Deduplication for cfDNA sequencing data☆11Jul 5, 2017Updated 8 years ago
- WisecondorX — An evolved WISECONDOR☆113Updated this week
- Pipeline for Illumina shotgun sequencing of 16S rRNA amplicon sequences☆14Sep 2, 2016Updated 9 years ago
- Clinical Variant Annotation Pipeline☆10Apr 21, 2020Updated 5 years ago
- CircSplice☆12Feb 27, 2019Updated 7 years ago
- ☆15Oct 10, 2023Updated 2 years ago
- This method uses shallow Whole Genome Sequencing (sWGS) and the segmentation of a genomic profile to assess the Homologous Recombination …☆37Sep 16, 2025Updated 5 months ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆99Jun 22, 2022Updated 3 years ago
- Detecting somatic mutations and predicting tumor-specific neo-antigens☆29Aug 10, 2021Updated 4 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Feb 20, 2026Updated last week
- Framework to benchmark algorithms when detecting germline copy number variations (CNVs) from NGS data☆14Dec 24, 2024Updated last year
- Collection of notes and scripts related to NGS☆14Feb 18, 2026Updated last week
- BAMixChecker: A fast and efficient tool for sample matching checkup☆15Jun 12, 2022Updated 3 years ago
- Advanced plotting functions for CNV data generated by CNV-Seq and Control Freec☆13Aug 25, 2020Updated 5 years 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 3 years ago
- detection of mutations causing splicing change☆13Oct 6, 2022Updated 3 years ago
- Important papers relating to the biology of cell free DNA☆19Sep 21, 2018Updated 7 years ago
- This repository contains the code to run the ASCETS arm-level copy number events caller for targeted sequencing data. ASCETS produces arm…☆18Jan 31, 2024Updated 2 years ago
- a pipeline to process data of PEM-seq or data similar, which is more comprehensive than superQ☆10Updated this week
- Generate and process BAM files from Illumina sequencing instrument files☆23Feb 25, 2016Updated 10 years ago
- phenotype-based prioritization of candidate genes for human diseases☆65Jan 25, 2023Updated 3 years ago
- Analysis of epigenetic signals captured by fragmentation patterns of cell-free DNA☆78Jul 22, 2020Updated 5 years ago