jia-zhuang / mapper
Short reads aligner for NIPT/CNV
☆15Updated 6 years ago
Related projects ⓘ
Alternatives and complementary repositories for mapper
- NiPTUNE. A Python library for NIPT analyses.☆9Updated 2 years ago
- R Package for Non Invasive Prenatal Testing (NIPT) analysis☆40Updated 5 years ago
- This is the official development repository for BaseVar, which call variants for large-scale ultra low-pass (<1.0x) WGS data, especially …☆25Updated 2 weeks ago
- ThermoFisher Ion Torrent plugin to detect fetal trisomies and estimate fetal fraction☆16Updated 6 years ago
- Bayesian-based fetal genotyping using maternal cell-free DNA and parental sequencing data.☆13Updated 5 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆25Updated 5 months ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆27Updated 4 months ago
- ☆10Updated last year
- BAMixChecker: A fast and efficient tool for sample matching checkup☆13Updated 2 years ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago
- do some exercise☆11Updated 5 months ago
- Linkage disequlibrium-informed PGT-A (LD-PGTA). A package for detecting genotypic signatures of aneuploidy from extremely low-coverage se…☆16Updated 2 years ago
- Streamlined duo/trio analysis and pedigree haplotyping: from VCF to interactive HTML☆13Updated 2 weeks ago
- ☆15Updated 11 months ago
- Computes various SV statistics☆14Updated last year
- Tools for processing and analyzing structural variants.☆32Updated 9 years ago
- VCF files of SVs using long-read sequencing (LRS).☆21Updated 2 years ago
- Clin-mNGS: Automated pipeline for pathogen detection from clinical metagenomic data☆16Updated 3 years ago
- Structural variant VCF annotation, duplicate removal and comparison☆27Updated last month
- Multiplex Primer Design☆20Updated 4 years ago
- Structural variant caller☆54Updated 2 years ago
- SANEFALCON (Single reAds Nucleosome-basEd FetAL fraCtiON): Calculating the fetal fraction for noninvasive prenatal testing based on genom…☆15Updated 4 years ago
- Somatic point mutation caller☆17Updated 8 years ago
- A Mendelian approach to variant effect prediction built in keras☆16Updated last month
- CNV detection tool for targeted NGS panel data☆16Updated 2 years ago
- Framework to benchmark algorithms when detecting germline copy number variations (CNVs) from NGS data☆14Updated 4 years ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 6 years ago
- Plot CNV data with a genome viewer in R☆15Updated 7 years ago
- An accurate repeat detection from Nanopore data using deep learning and image techniques☆20Updated last year
- A new tool to infer sex from massively parallel sequencing data.☆15Updated 5 months ago