Beacon v2 interface for accessing genomic information

Large genomic data sets are generated from various activities, including genealogical research, biomedical studies, and clinical applications, providing significant value but often restricted by privacy concerns. Beacon services have emerged to broaden accessibility to such data, enabling queries fo...

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Detalles Bibliográficos
Autor: Marmol Asenjo, Alberto
Tipo de recurso: tesis de maestría
Fecha de publicación:2024
País:España
Institución:Universitat Politècnica de Catalunya (UPC)
Repositorio:UPCommons. Portal del coneixement obert de la UPC
Idioma:inglés
OAI Identifier:oai:upcommons.upc.edu:2117/424647
Acceso en línea:https://hdl.handle.net/2117/424647
Access Level:acceso abierto
Palabra clave:Computer security
Genomics
Data protection
Cybersecurity
Genomic Data
Proxy
Informatics
Data Protection
Genomic Security
Ciberseguridad
datos genómicos
informática
protección de datos
seguridad genómica
Seguretat informàtica
Genòmica
Protecció de dades
Àrees temàtiques de la UPC::Informàtica::Seguretat informàtica
Descripción
Sumario:Large genomic data sets are generated from various activities, including genealogical research, biomedical studies, and clinical applications, providing significant value but often restricted by privacy concerns. Beacon services have emerged to broaden accessibility to such data, enabling queries for specific alleles to inform clinical decisions. However, these services can inadvertently reveal individual participation in datasets. To address these challenges, the Beacon v2 Interface for Accessing Genomic Information, developed by the Global Alliance for Genomics and Health (GA4GH), aims to create a secure, user-friendly solution for querying population-level genomic data, emphasizing privacy and security. This project, built on Daniel Naro?s work for the GenClinLab Project [92], incorporates a proxy interface to enhance the security, privacy, and granularity of genomic data management. By using Differential Privacy (DP) techniques, the interface ensures the anonymity of individual data, which is vital for research in rare disease genetics and cancer. The innovative algorithmic framework introduced in this project will ensure privacy with minimal impact on data utility, addressing both batch and online query settings. Ultimately, this interface aims to be a cornerstone in the genomic data-sharing ecosystem, advancing scientific and clinical research while upholding the highest standards of privacy and security.