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Module for single-cell data extraction given a segmentation mask and multi-channel image.

Nallo is a bioinformatics analysis pipeline for long-reads from both PacBio and (targeted) ONT-data, focused on rare-disease. The pipeline detects a wide range of genetic variants, performs genome assembly, and reports CpG methylation. It also enables annotation and ranking of variants based on their predicted functional consequences.

Eukaryotic Genome Annotation Pipeline-External caller scripts and documentation

nf-core/variantbenchmarking is designed to evaluate and validate the accuracy of variant calling methods in genomic research. Initially, the pipeline is tuned well for available gold standard truth sets (for example, Genome in a Bottle and SEQC2 samples) but it can be used to compare any two variant calling results. The workflow provides benchmarking tools for small variants including SNVs and INDELs, Structural Variants (SVs) and Copy Number Variations (CNVs) for germline and somatic analysis.

Workflow optimized for the analysis of rare diseases, designed to detect SNVs, INDELs , CNVs and SVs in targeted sequencing data (CES/WES) and whole genome sequencing (WGS), built on Nextflow and following nf-core standards. It has an advanced variant annotation optimized for rare diseases diagnosis and discovery.

Software comprehensive pan-genome variant detection pipeline to identify genetic variations across diverse populations. It supports execution on both local machines and Sun Grid Engine (SGE) clusters. Leveraging pan-genome references, the tool enables high-precision detection of Single Nucleotide Variants (SNVs), INDELs.

A flexible pipeline, built with Nextflow, for the complete analysis of bacterial genomes.

Pathogensurveillance is a population genomics pipeline for pathogen identification, variant detection, and biosurveillance. The pipeline accepts paths to raw reads for one or more organisms and creates reports in the form of an interactive HTML document. Significant features include the ability to analyze unidentified eukaryotic and prokaryotic samples, creation of reports for multiple user-defined groupings of samples, automated discovery and downloading of reference assemblies from NCBI RefSeq, and rapid initial identification based on k-mer sketches followed by a more robust multi gene phylogeny and SNP-based phylogeny.

A generic but comprehensive bacterial annotation pipeline, built with Nextflow, with nice graphical options for investigating results.

A pipeline for preprocessing short and long sequencing reads, built with Nextflow.