Short reads aligner for NIPT/CNV
☆16Oct 10, 2018Updated 8 years ago
Alternatives and similar repositories for mapper
Users that are interested in mapper are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- R Package for Non Invasive Prenatal Testing (NIPT) analysis☆46Nov 5, 2019Updated 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 …☆28May 28, 2026Updated 5 months ago
- ThermoFisher Ion Torrent plugin to detect fetal trisomies and estimate fetal fraction☆17Mar 23, 2018Updated 8 years ago
- 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
- Managed Kubernetes at scale on DigitalOcean • AdDigitalOcean Kubernetes includes the control plane, bandwidth allowance, container registry, automatic updates, and more for free.
- Bayesian-based fetal genotyping using maternal cell-free DNA and parental sequencing data.☆14Jun 5, 2019Updated 7 years ago
- Clinical Variant Annotation Pipeline☆10Apr 21, 2020Updated 6 years ago
- 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
- NIPT-human-genetics is a semi-automated workflow designed for the analysis of large-scale ultra-low-pass non-invasive prenatal test (NIPT…☆15May 30, 2026Updated 5 months ago
- A fast seed-embed-extend based sequence mapper and aligner☆23Aug 28, 2024Updated 2 years ago
- Browser-based tool for visualizing and analyzing germline copy number variants in genomic data☆12Nov 7, 2024Updated last year
- Official code repository for JAX-CNV☆14Jan 16, 2020Updated 6 years ago
- Updated figures for "A benchmarking of WGS-based structural variant callers" paper☆27Apr 3, 2022Updated 4 years ago
- BAMixChecker: A fast and efficient tool for sample matching checkup☆16Jun 12, 2022Updated 4 years ago
- GPU virtual machines on DigitalOcean Gradient AI • AdGet to production fast with high-performance AMD and NVIDIA GPUs you can spin up in seconds. The definition of operational simplicity.
- mgikit is a collection of tools used to demultiplex fastq files and generate demultiplexing and quality reports.☆20Updated this week
- Copy number estimation of highly duplicated sequences☆12Aug 15, 2017Updated 9 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆73Sep 4, 2024Updated 2 years ago
- Classifier for metagenomic sequences☆29Nov 12, 2018Updated 7 years ago
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆51Oct 14, 2023Updated 3 years ago
- ☆11Apr 25, 2024Updated 2 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Feb 20, 2026Updated 8 months ago
- Structural Variation breakpoint discovery via adaptive learning☆17Jul 6, 2023Updated 3 years ago
- prioritize effects of variant annotations from VEP, SnpEff, et al.☆35Sep 25, 2026Updated last month
- Deploy to Railway using AI coding agents - Free Credits Offer • AdUse Claude Code, Codex, OpenCode, and more. Autonomous software development now has the infrastructure to match with Railway.
- Fast and accurate DNASeq Variant Calling workflow composed of LUSH-toolkits☆30Dec 26, 2024Updated last year
- Generate duplex/single consensus reads to reduce sequencing noises and remove duplications☆127Oct 27, 2023Updated 3 years ago
- Fragmentase Artifact Detection and Elimination☆13Mar 22, 2022Updated 4 years ago
- ☆11Aug 29, 2022Updated 4 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆18Mar 10, 2018Updated 8 years ago
- VariantGrid public repo☆31Updated this week
- Perl and Python scripts allowing to get sequence information from GenBank, RefSeq or ENA sequence repositories☆14Mar 29, 2025Updated last year
- Fork of https://bitbucket.org/mcgranahanlab/lohhla☆18Feb 19, 2020Updated 6 years ago
- CADD-SV – a framework to score the effect of structural variants☆23Oct 22, 2026Updated 2 weeks ago
- Managed Database hosting by DigitalOcean • AdPostgreSQL, MySQL, MongoDB, Kafka, Valkey, and OpenSearch available. Automatically scale up storage and focus on building your apps.
- Configs and descriptions of circos plots created on FUMA web application☆15Dec 10, 2017Updated 8 years ago
- Toolkit for automated and rapid discovery of structural variants☆24Aug 24, 2023Updated 3 years ago
- Deconvolving tumor purity and ploidy by integrating copy number alterations and loss of heterozygosity☆40Jul 19, 2017Updated 9 years ago
- WisecondorX — An evolved WISECONDOR☆118Oct 20, 2026Updated 2 weeks ago
- likelihood calculations over a tree to support ancient DNA Y chr analysis and more☆11Jul 4, 2023Updated 3 years ago
- ☆33Dec 6, 2024Updated last year
- Rails application for storing and parsing clinical exome VCF files. Gene annotations can be retrieved via Biomart integration from Ensemb…☆10May 7, 2017Updated 9 years ago