molgenis / NIPTeR
R Package for Non Invasive Prenatal Testing (NIPT) analysis
☆41Updated 5 years ago
Alternatives and similar repositories for NIPTeR:
Users that are interested in NIPTeR are comparing it to the libraries listed below
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆96Updated 2 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆66Updated 4 months ago
- WISECONDOR (WIthin-SamplE COpy Number aberration DetectOR): Detect fetal trisomies and smaller CNV's in a maternal plasma sample using wh…☆44Updated 8 months ago
- QDNAseq package for Bioconductor☆49Updated 5 months ago
- Helper scripts for biological data processing from Sentieon☆64Updated 2 months ago
- ☆39Updated 8 months ago
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆20Updated 2 years ago
- CNV screening and annotation tool☆24Updated 8 years ago
- A standalone end-to-end data analysis pipeline for Duplex Sequencing☆21Updated last year
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆60Updated last year
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆22Updated last year
- This WDL pipeline implements data pre-processing and initial variant calling according to the GATK Best Practices for germline SNP and In…☆51Updated 4 years ago
- Comprehensive benchmark of structural variant callers☆44Updated 3 years ago
- Workflows for germline short variant discovery in WGS data. PairedEndSingleSampleWf has been superseded in Broad production by https://gi…☆55Updated 4 years ago
- ☆51Updated 2 years ago
- Documenting usage and experience with bioinformatic tools☆40Updated 9 years ago
- WisecondorX — An evolved WISECONDOR☆94Updated 4 months ago
- ☆38Updated 11 months ago
- Snakemake pipelines for nanopore sequencing data archiving and processing☆88Updated 2 years ago
- ☆36Updated 3 years ago
- Benchmarking of aligners and variant callers for Whole Exome Sequencing data☆19Updated 6 years ago
- This is the official development repository for BaseVar, which call variants for large-scale ultra low-pass (<1.0x) WGS data, especially …☆26Updated last month
- Lima - Demultiplex Barcoded PacBio Samples☆65Updated 2 months ago
- ☆15Updated last year
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago
- Concordance and contamination estimator for tumor–normal pairs☆56Updated 2 months ago
- Data and information about the Polaris study☆53Updated 5 years ago
- ☆78Updated 10 years ago
- R package designed to simplify structural variant analysis☆71Updated 3 years ago