Decoding the most complex regions of the human genome
We are a computational genomics lab in the Department of Human Genetics at the University of Utah, led by Mitchell R. Vollger.
We investigate segmental duplications—the most challenging and rapidly evolving regions of the human genome—using long-read sequencing, genome assembly, and chromatin biology approaches. Our work aims to understand how regulatory elements in these complex regions affect human evolution and disease, with particular focus on neurogenesis and human-specific traits.
Key areas: Segmental duplications | Gene regulation | Long-read sequencing | Genome assembly | Chromatin biology
| Tool | Description |
|---|---|
| StainedGlass | Colorful identity heatmaps of genomic sequences |
| rustybam | Bioinformatics toolkit in Rust |
| NucFreq | Assembly QC and validation |
| SafFire | Alignment visualization |
| SDA | Segmental Duplication Assembler |
We are core contributors to the fiberseq organization, developing tools for Fiber-seq chromatin accessibility analysis:
| Tool | Description |
|---|---|
| fibertools-rs | CLI and library for Fiber-seq data (Rust) |
| FIRE | Fiber-seq Inferred Regulatory Elements workflow |
| Molecular-annotation-spec | Specification for molecular annotations |
| fiberseq.github.io | The computational guide to Fiber-seq |
- asm-to-reference-alignment - Assembly-to-reference alignment pipeline
- Rhodonite - Modular repeat masking workflow
- fastCN-smk - Copy number estimation workflow