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.