TranspoScope

TranspoScope visualizes and evaluates potential retrotransposon insertions from targeted and whole-genome sequencing data to present experimental evidence for their genomic locations and impacts on the human genome.


Key Features:

  • Visualization of Retrotransposon Insertions: Visualizes evidence from targeted and whole-genome sequencing for retrotransposon insertions, highlighting their genomic locations.
  • Evaluation of Insertion Evidence: Presents experimental evidence to support assessment of candidate retrotransposon insertion events.
  • Compatibility with MELT and TIPseqHunter: Accepts insertion calls or outputs from MELT and TIPseqHunter as input data sources.

Scientific Applications:

  • Genome evolution and stability: Enables analysis of how retrotransposon insertions influence human genome dynamics and stability.
  • Genetic diversity and disease mechanisms: Supports investigation of the role of retrotransposons in genetic diversity and disease-related mechanisms.
  • Genomic instability and disease associations: Facilitates study of contributions of retrotransposons to genomic instability and potential links to various diseases.
  • Development and aging: Aids exploration of retrotransposon impacts during prenatal development, disease progression, and aging processes.

Methodology:

Integrates insertion calls from sequencing experiments, including outputs from MELT and TIPseqHunter, to display sequencing-derived evidence of retrotransposon insertions in genomic context.

Topics

Details

License:
MIT
Programming Languages:
Python
Added:
1/18/2021
Last Updated:
3/3/2021

Operations

Publications

Grivainis M, Tang Z, Fenyö D. TranspoScope: interactive visualization of retrotransposon insertions. Bioinformatics. 2020;36(12):3877-3878. doi:10.1093/bioinformatics/btaa244. PMID:32298413. PMCID:PMC7320613.

PMID: 32298413
PMCID: PMC7320613
Funding: - National Institutes of Health: P01AG051449, P50GM107632, U24CA210972