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

 0 Người đánh giá. Xếp hạng trung bình 0

Tác giả: Denis C Bauer, Brendan Hosking, Yatish Jain, Sarvnaz Karimi, Sulev Kõks, Sonali Majumdar, Jordi Rambla, Shakila Tonni, Natalie A Twine, Anuradha Wickramarachchi

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: England : Bioinformatics (Oxford, England) , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 551739

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 to be applied to securely shared cohorts via the GA4GH Beacon protocol. By simply "asking" Beacon, actionable insights can be gained, analyzed and made publication-ready. RESULTS: In the Parkinson's Progression Markers Initiative (PPMI) we use natural language to ask whether the sex-differences observed in Parkinson's disease are due to X-linked or autosomal markers. AskBeacon returns a publication-ready visualization showing that for PPMI the autosomal marker occurred 1.4 times more often in males with Parkinson's disease than females, compared to no differences for the X-linked marker. We evaluate commercial and open-weight LLM models, as well as different architectures to identify the best strategy for translating research questions to Beacon queries. AskBeacon implements extensive safety guardrails to ensure that genomic data is not exposed to the LLM directly, and that generated code for data extraction, analysis and visualization process is sanitized and hallucination resistant, so data cannot be leaked or falsified. AVAILABILITY: AskBeacon is available at https://github.com/aehrc/AskBeacon. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Tạo bộ sưu tập với mã QR

THƯ VIỆN - TRƯỜNG ĐẠI HỌC CÔNG NGHỆ TP.HCM

ĐT: (028) 36225755 | Email: tt.thuvien@hutech.edu.vn

Copyright @2024 THƯ VIỆN HUTECH