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 (GA4GH::GKS) 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.