Joint structural variant and copy number variant caller for HiFi sequencing data

SKERA - Deconcat PacBio reads

Iso-Seq - Scalable De Novo Isoform Discovery from Single-Molecule PacBio Reads

Mark duplicate reads from PacBio sequencing of an amplified library

Structural variation caller using third generation sequencing

Lima - Demultiplex Barcoded PacBio Samples

A minimap2 frontend for PacBio native data formats

HiFi-based caller for highly similar paralogous genes

A versatile pairwise aligner for genomic and spliced nucleotide sequences

pbsv - PacBio structural variant (SV) calling and analysis tools

Read-based phasing of genomic variants, also called haplotype assembly

Hifiasm: a haplotype-resolved assembler for accurate Hifi reads

Tools for manipulating sequence graphs in the GFA and rGFA formats

Depth-weighted De-Mixing

Repository for storing latest model, protobuf, designation hash and alias files for pangolin assignments

Integrative Genomics Viewer. Fast, efficient, scalable visualization tool for genomics data and annotations

Tools for working with genomic and high throughput sequencing data.

serious constellations of reoccurring phylogenetically-independent origin

A progressive Node.js framework for building efficient, scalable, and enterprise-grade server-side applications with TypeScript/JavaScript 🚀

Deliver web apps with confidence 🚀

The Most Complete Angular UI Component Library

Repository for suggesting new lineages that should be added to the current scheme

simple viewer for variant call format using htslib

lumpy: a general probabilistic framework for structural variant discovery

Tissue-specific variant effect predictions on splicing

GFF/GTF utility providing format conversions, region filtering, FASTA sequence extraction and more

A GPU-friendly implementation of SpliceAI

A deep learning-based tool to identify splice variants

GRIDSS: the Genomic Rearrangement IDentification Software Suite