variant-calling topic

Analysis pipeline to detect germline or somatic variants (pre-processing, variant calling and annotation) from WGS / targeted sequencing

nf-core

A tool set for short variant discovery in genetic sequence data.

atks

Megalodon is a research command line tool to extract high accuracy modified base and sequence variant calls from raw nanopore reads by anchoring the information rich basecalling neural network output...

nanoporetech

Fast and accurate gene fusion detection from RNA-Seq data

suhrig

Graph realignment tools for structural variants

Illumina

:floppy_disk: :page_with_curl: "Reads to report" for public health and clinical microbiology

tseemann

De novo assembly based variant calling pipeline for Illumina short reads

lh3

Assembly and intrahost/low-frequency variant calling for viral samples

nf-core

High performance data storage for importing, querying and transforming variants.

GenomicsDB

CCS: Generate Highly Accurate Single-Molecule Consensus Reads (HiFi Reads)

PacificBiosciences