AskBeacon-performing genomic data exchange and analytics with natural language.

Journal: Bioinformatics (Oxford, England)
PMID: 39985504

Abstract

MOTIVATION: Enabling clinicians and researchers to directly interact with global genomic data resources by removing technological barriers is vital for medical genomics. AskBeacon enables large language models (LLMs) to be applied to securely shared cohorts via the Global Alliance for Genomics and Health Beacon protocol. By simply "asking" Beacon, actionable insights can be gained, analyzed, and made publication-ready.

Authors

  • Anuradha Wickramarachchi
    The Australian e-Health Research Centre, Health and Biosecurity, CSIRO.
  • Shakila Tonni
    Data61, Commonwealth Scientific and Industrial Research Organisation, Sydney, NSW 2015, Australia.
  • Sonali Majumdar
    Genomics Facility, The Wistar Institute, Philadelphia, PA 19104, USA.
  • Sarvnaz Karimi
    Australian e-Health Research Centre, CSIRO, Royal Brisbane and Women's Hospital, Brisbane, Australia.
  • Sulev Kõks
    Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth, WA 6150, Australia.
  • Brendan Hosking
    Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation, Sydney, NSW 2145, Australia.
  • Jordi Rambla
    European Genome-Phenome Archive, Centre for Genomic Regulation, Barcelona, Spain.
  • Natalie A Twine
    Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation, Sydney, NSW 2145, Australia.
  • Yatish Jain
    Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation, Sydney, NSW 2145, Australia.
  • Denis C Bauer
    1 Health and Biosecurity, CSIRO , Sydney, Australia .

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