Short reads aligner for NIPT/CNV
☆16Oct 10, 2018Updated 7 years ago
Alternatives and similar repositories for mapper
Users that are interested in mapper are comparing it to the libraries listed below
Sorting:
- 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
- NiPTUNE. A Python library for NIPT analyses.☆12Nov 22, 2021Updated 4 years ago
- R Package for Non Invasive Prenatal Testing (NIPT) analysis☆46Nov 5, 2019Updated 6 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
- ThermoFisher Ion Torrent plugin to detect fetal trisomies and estimate fetal fraction☆17Mar 23, 2018Updated 7 years ago
- Official code repository for JAX-CNV☆14Jan 16, 2020Updated 6 years ago
- A fast seed-embed-extend based sequence mapper and aligner☆23Aug 28, 2024Updated last year
- BAMixChecker: A fast and efficient tool for sample matching checkup☆15Jun 12, 2022Updated 3 years ago
- CADD-SV – a framework to score the effect of structural variants☆18Feb 11, 2026Updated 3 weeks ago
- Deconvolving tumor purity and ploidy by integrating copy number alterations and loss of heterozygosity☆40Jul 19, 2017Updated 8 years ago
- mgikit is a collection of tools used to demultiplex fastq files and generate demultiplexing and quality reports.☆18Feb 26, 2026Updated last week
- Fork of https://bitbucket.org/mcgranahanlab/lohhla☆18Feb 19, 2020Updated 6 years ago
- Classifier for metagenomic sequences☆30Nov 12, 2018Updated 7 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Mar 10, 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
- 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
- A nextflow pipeline for calling exome CNVs☆13Feb 24, 2026Updated last week
- Header-only, gzread-like reader for gzip, bz2, and xz.☆11Aug 8, 2018Updated 7 years ago
- Bayesian-based fetal genotyping using maternal cell-free DNA and parental sequencing data.☆14Jun 5, 2019Updated 6 years ago
- Automated ACMG/AMP classification for human variants associated with congenital hearing loss☆11May 14, 2025Updated 9 months ago
- ☆11Jun 14, 2023Updated 2 years ago
- Browser-based tool for visualizing and analyzing germline copy number variants in genomic data☆10Nov 7, 2024Updated last year
- NIPT-human-genetics is a semi-automated workflow designed for the analysis of large-scale ultra-low-pass non-invasive prenatal test (NIPT…☆13Sep 22, 2025Updated 5 months ago
- A nextflow pipeline for calling and annotating small germline variants from short DNA reads for WES and WGS data☆13Updated this week
- Toolkit for automated and rapid discovery of structural variants☆24Aug 24, 2023Updated 2 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 2 weeks ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆75Sep 4, 2024Updated last year
- WisecondorX — An evolved WISECONDOR☆113Updated this week
- Clinical Variant Annotation Pipeline☆10Apr 21, 2020Updated 5 years ago
- Extremely fast Variant Call Format annotation☆11Dec 25, 2024Updated last year
- ☆19Jul 28, 2025Updated 7 months ago
- genotyping by Mapping-free ALternate-allele detection of known VAriants☆10Mar 6, 2023Updated 3 years ago
- Bacterial typing pipeline for clinical NGS data. Written in NextFlow, Python & Bash.☆13Updated this week
- A software for haplotype inference☆13May 13, 2025Updated 9 months ago
- Clin.iobio - Workflow and reporting for iobio variant analysis pipeline☆12Oct 7, 2025Updated 5 months ago
- Curated list of resources for variant prioritization☆14Nov 18, 2025Updated 3 months ago
- Updated figures for "A benchmarking of WGS-based structural variant callers" paper☆27Apr 3, 2022Updated 3 years ago
- ☆29Dec 6, 2024Updated last year