Assistant Project Scientist working in Vineet Bafna’s group at UC San Diego. We study extrachromosomal DNA and genomic focal amplifications - developing methods to detect and reconstruct them using a variety of different technologies. I also lead the AmpliconSuite GitHub organization and manage the development of AmpliconRepository.org.

Tools I built or maintain

The following tools are available on GitHub:

1. Detecting and reconstructing focal amplifications:

  • AmpliconArchitect: Detect and analyze focal amplifications with NGS data. Originally developed by Viraj Deshpande - I am a maintainer of this codebase.
  • AmpliconReconstructor: Reconstruct focal amplifications using NGS and optical mapping data.
  • AmpliconClassifier: Classify AA outputs to detect ecDNA, BFB, etc.
  • AmpliconSuite-pipeline: A quickstart wrapper for AA + other upstream/downstream analysis utilities.

2. Alignment of optical maps:

  • FaNDOM: Fast, open-source aligner for Bionano optical map data (co-developer).
  • SegAligner: Sensitive alignment of small reference genome segments to optical map contigs (part of AmpliconReconstructor).

3. Visualization of focal amplifications:

  • CycleViz: Visualize focal amplifications detected by AmpliconArchitect and AmpliconReconstructor.

4. Simulation projects:

Contact

jluebeck[ at] ucsd.edu.