nf-core / variantbenchmarkingLinks
Pipeline to evaluate and validate the accuracy of variant calling methods in genomic research
☆34Updated last week
Alternatives and similar repositories for variantbenchmarking
Users that are interested in variantbenchmarking are comparing it to the libraries listed below
Sorting:
- A comprehensive cancer DNA/RNA analysis and reporting pipeline☆80Updated this week
- Snakemake-based workflow for detecting structural variants in genomic data☆80Updated 5 months ago
- ☆43Updated 10 months ago
- ClairS-TO - a deep-learning method for tumor-only somatic variant calling☆66Updated 4 months ago
- TIDDIT - structural variant calling☆75Updated 3 months ago
- POSTRE: Prediction Of STRuctural variant Effects☆27Updated 5 months ago
- An R package for estimating poly(A)-tail lengths in Oxford Nanopore RNA and DNA reads.☆54Updated 9 months ago
- LongcallR is a SNP caller for single molecule long-read RNA-seq data☆63Updated 3 weeks ago
- An analysis pipeline for long-reads from both PacBio and Oxford Nanopore Technologies (ONT), written in Nextflow.☆32Updated this week
- EM based transcript abundance from nanopore reads mapped to a transcriptome with minimap2☆61Updated 9 months ago
- ☆23Updated 7 months ago
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆49Updated this week
- ☆33Updated last year
- SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …☆46Updated 4 months ago
- BigWig and BAM utilities☆97Updated last year
- Genome annotation with PacBio Iso-Seq. Takes raw subreads as input, generate Full Length Non Chemiric (FLNC) sequences and produce a bed …☆45Updated 3 weeks ago
- Phylogeny-based Contamination Detection in Mitochondrial and Whole-Genome Sequencing Studies☆18Updated 2 years ago
- gatk4 RNA variant calling pipeline☆51Updated 3 weeks ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆48Updated 5 years ago
- ⛏ HLA predictions from NGS shotgun data☆54Updated 2 months ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year
- Human reference genome analysis sets☆53Updated 2 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆72Updated 11 months ago
- for visual evaluation of read support for structural variation☆54Updated last year
- Long-read Isoform Quantification and Analysis☆38Updated 4 months ago
- A program for the analysis of single cell nanopore long read data☆19Updated last month
- fusion transcript detection using long reads, leveraging ctat-minimap2 and FusionInspector☆22Updated last week
- (WIP) best-practices workflow for rare disease☆60Updated last year
- SingleCell Nanopore sequencing data analysis☆60Updated 2 months ago
- ☆39Updated last year