NIPT-human-genetics is a semi-automated workflow designed for the analysis of large-scale ultra-low-pass non-invasive prenatal test (NIPT) sequencing data in human genetic studies.
☆13Sep 22, 2025Updated 5 months ago
Alternatives and similar repositories for NIPT-human-genetics
Users that are interested in NIPT-human-genetics are comparing it to the libraries listed below
Sorting:
- Glue between Clinical Genomics apps☆11Feb 27, 2026Updated last week
- NiPTUNE. A Python library for NIPT analyses.☆12Nov 22, 2021Updated 4 years ago
- Short reads aligner for NIPT/CNV☆16Oct 10, 2018Updated 7 years 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
- 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
- 本项目以前端开发为主,展示了羌族刺绣这一传统工艺的振兴与发展。通过精美的网页设计与互动体验,用户可以深入了解羌族 刺绣的文化背景、产品系列以及团队定制服务。本项目还包含对非物质文化遗产的详细介绍,旨在通过现代技术手段传播和推广这一宝贵的文化遗产。此作品参加了全国大学生电子商务…☆12Sep 3, 2024Updated last year
- Classifier of pathogenic non-coding variants in Mendelian diseases☆10Feb 6, 2020Updated 6 years ago
- 2024年全国大学生电子设计大赛省赛B题参赛设计☆14Sep 17, 2024Updated last year
- visualization tools for exon/junction coverage☆11Dec 30, 2019Updated 6 years ago
- ☆12Apr 26, 2020Updated 5 years ago
- Divine: Prioritizing Genes for Rare Mendelian Disease in Whole Exome Sequencing Data☆13Apr 18, 2019Updated 6 years ago
- A local realigner around InDels for MethylSeq data☆12Apr 28, 2016Updated 9 years ago
- 使用CC2530单片机实现数据上传和远程控制的功能。大概流程如下:终端采集数据无线发送到协调器,协调器再将数据上传到OneNET云平台,在云平台上可以下发命令控制LED灯。更详细内容请看:http://t.csdn.cn/fB32X☆13Apr 10, 2022Updated 3 years ago
- Fast, accurate and simple to use command line tool for variant detection in NGS data.☆12Sep 3, 2019Updated 6 years ago
- Translocator: local realignment and global remapping enabling accurate translocation detection using single-molecule sequencing long read…☆12Jan 22, 2020Updated 6 years ago
- Browser-based tool for visualizing and analyzing germline copy number variants in genomic data☆10Nov 7, 2024Updated last year
- A protocol to estimate global ancestry starting from raw Illumina data☆11Oct 16, 2019Updated 6 years ago
- Pipeline in place at the UGI for DNA level analysis☆11Aug 29, 2016Updated 9 years ago
- Implementation of eBWT using Prefix-free parse (PFP)☆14Jul 14, 2025Updated 7 months ago
- Interactive table from gemini output☆10Mar 5, 2019Updated 7 years ago
- CardiacProfileR: An R package for extraction and visualisation of heart rate profiles from wearable fitness trackers☆12Jun 10, 2018Updated 7 years ago
- ☆11Dec 9, 2022Updated 3 years ago
- Code for the meQTL analyses presented in Hawe et al. 2021 Nature Genetics☆14Jan 14, 2022Updated 4 years ago
- ☆13Apr 18, 2022Updated 3 years ago
- Code used to process and analyze structural variants and short tandem repeat variants profiled in 719 deeply sequenced whole genomes as p…☆11Jun 25, 2019Updated 6 years ago
- File parsing and writing code for Ensembl☆10Jan 7, 2026Updated last month
- WGS Pipeline☆13Jan 19, 2018Updated 8 years ago
- A tool to examine duplicate read characteristics in a BAM file☆12Dec 8, 2017Updated 8 years ago
- Header-only, gzread-like reader for gzip, bz2, and xz.☆11Aug 8, 2018Updated 7 years ago
- A tool for detecting CNVs from WGS data☆11Jul 9, 2020Updated 5 years ago
- Software for creating and comparing genome fingerprints.☆11Jun 30, 2024Updated last year
- A varitation graph tool☆10Dec 23, 2019Updated 6 years ago
- A nextflow pipeline for calling exome CNVs☆13Feb 24, 2026Updated last week
- Shiny app for geno-pheno catalog☆11Nov 4, 2022Updated 3 years ago
- ☆10Jun 9, 2020Updated 5 years ago
- 🔨 a tiny but powerful javascript library that performs client-side routing, templating, and REST API communication to help you get your …☆14Oct 23, 2016Updated 9 years ago
- Directly create a bigwig file with signal derived from a sorted and indexed bam file.☆11Jul 7, 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
- Fast, efficient, lossless compression of fastq files☆14Jan 4, 2021Updated 5 years ago