alexcorm / IonNIPTLinks
ThermoFisher Ion Torrent plugin to detect fetal trisomies and estimate fetal fraction
☆17Updated 7 years ago
Alternatives and similar repositories for IonNIPT
Users that are interested in IonNIPT are comparing it to the libraries listed below
Sorting:
- R Package for Non Invasive Prenatal Testing (NIPT) analysis☆41Updated 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 …☆27Updated 2 weeks ago
- ☆53Updated 2 years ago
- Tool to find regions of homozygosity (ROHs) from sequencing data.☆35Updated last year
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆66Updated 2 years ago
- TIDDIT - structural variant calling☆75Updated 4 months ago
- Helper scripts for biological data processing from Sentieon☆64Updated 9 months ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆72Updated 11 months ago
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆22Updated 2 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆24Updated 2 years ago
- WISECONDOR (WIthin-SamplE COpy Number aberration DetectOR): Detect fetal trisomies and smaller CNV's in a maternal plasma sample using wh…☆46Updated last year
- A new tool to infer sex from massively parallel sequencing data.☆17Updated 2 months ago
- Stratification BED files from the Global Alliance for Genomics and Health (GA4GH) Benchmarking Team and the Genome in a Bottle Consortium…☆81Updated 2 years ago
- CNV screening and annotation tool☆25Updated 8 years ago
- a Medical Genetics Sequence Analysis Pipeline☆82Updated this week
- Methods to integrate data from multiple genome sequencing datasets and form consensus variant calls☆44Updated 3 years ago
- ☆14Updated last year
- Public Benchmark of Long-Read Structural Variant Caller on PacBio CCS HG002 Data☆51Updated 4 years ago
- NiPTUNE. A Python library for NIPT analyses.☆9Updated 3 years ago
- Converts snpeff annotations into MAF☆11Updated 11 months ago
- ☆43Updated 11 months ago
- A tool for profiling long STRs from short reads☆98Updated 4 years ago
- CN-Learn☆29Updated 5 years ago
- SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …☆47Updated 4 months ago
- Bayesian-based fetal genotyping using maternal cell-free DNA and parental sequencing data.☆13Updated 6 years ago
- WisecondorX — An evolved WISECONDOR☆101Updated last month
- Data and information about the Polaris study☆53Updated 5 years ago
- Structural Variants Pipeline for Long Reads☆44Updated 7 years ago
- Script to convert GTC/BPM files to VCF☆47Updated 11 months ago
- Python library to parse file formats related to Illumina bead arrays☆47Updated 6 months ago