Master Project - Cancer Cytogenetics Beacon

This project is based on the premises that:

  • cytogenetic aberration data (e.g. chromosomal translocations) represent an important set of molecular markers, esoecially in hematologic malignancies but also in developmental diseases
  • a large body of such data exists, but is mostly difficult to access and or search, systematically
  • cytogenetic annotations can be converted into modern variant annotation forrmats, such as being developed by the Genomic Knowledge Standards workstream of the Global Alliance for Genomics and Health (GA4GH)
  • an implementation to access genome variant data is the Beacon API

The project will entail

  • identification and retrieval of (molecular-)cytogenetic reference datasets
  • developing a cytogenetic => variant objects parsing software (based on some pre-existing code examples)
  • implementation/adaptation of a GA4GH Beacon instance (e.g. from our Beacon+ resource)

The project can be adjusted to a timeframe between 6-12 months, depending on the host institution's requirement.

Participation in additional projects is possible/probable.