Pheno-Ranker: a toolkit for comparison of phenotypic data stored in GA4GH standards and beyond

Pheno-Ranker: a toolkit for comparison of phenotypic data stored in GA4GH standards and beyond

Abstract Background Phenotypic data comparison is essential for disease association studies, patient stratification, and genotype–phenotype correlation analysis. To support these efforts, the Global Alliance for Genomics and Health (GA4GH) established Phenopackets v2 and Beacon v2 standards for stor...

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Bibliographic Details
Main Authors: Ivo C. Leist, María Rivas-Torrubia, Marta E. Alarcón-Riquelme, Guillermo Barturen, PRECISESADS Clinical Consortium, Ivo G. Gut, Manuel Rueda
Format: Article
Language:English
Published: BMC 2024-12-01
Series:BMC Bioinformatics
Subjects:
GA4GH
Phenopacket v2
Beacon v2
Health data model
Semantic similarity
Genomics
Online Access:https://doi.org/10.1186/s12859-024-05993-2

Internet

https://doi.org/10.1186/s12859-024-05993-2

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