The complete sequence of a human genome

A fast tool for detecting and decomposing segmental duplications in genome assemblies

Identification of segmental duplications in the genome

Identifying Y-chromosome haplogroups in arbitrarily large samples of sequenced or genotyped men

Evaluate variant calls and its combination with k-mer multiplicity

DEPRECATED - Workflow for the comprehensive detection and prioritization of variants in human genomes with PacBio HiFi reads

Detect and visualize target mutations by scanning FastQ files directly

《把时间当作朋友》

Jasmine: SV Merging Across Samples

SV genotyping with long reads

VCF files of SVs using long-read sequencing (LRS).

Structural variant toolkit for VCFs

Long read / genome alignment software

Copy number variant caller and depth visualization utility for PacBio HiFi reads

Synteny and Rearrangement Identifier

Mummer alignment tool

fast BAM/CRAM depth calculation for WGS, exome, or targeted sequencing

An ultra-fast all-in-one FASTQ preprocessor (QC/adapters/trimming/filtering/splitting/merging...)

A VCF comparison engine for structual variant benchmarking

RTG Tools: Utilities for accurate VCF comparison and manipulation

A structural variation pipeline for short-read sequencing

Tandem repeat genotyping and visualization from PacBio HiFi data

PEPPER-Margin-DeepVariant

Scientific workflow engine designed for simplicity & scalability. Trivially transition between one off use cases to massive scale production environments

Bayesian haplotype-based genetic polymorphism discovery and genotyping.

The next version of bwa-mem

StrVCTVRE, a structural variant classifier for exonic deletions and duplications

Burrow-Wheeler Aligner for short-read alignment (see minimap2 for long-read alignment)