Curating genomic disease-gene relationships with Gene2Phenotype (G2P)

Curating genomic disease-gene relationships with Gene2Phenotype (G2P)

Abstract Genetically determined disorders are highly heterogenous in clinical presentation and underlying molecular mechanism. The evidence underpinning these conditions in the peer-reviewed literature requires robust critical evaluation for diagnostic use. Here, we present a structured curation pro...

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Bibliographic Details
Main Authors: T. Michael Yates, Morad Ansari, Louise Thompson, Sarah E. Hunt, Elena Cibrian Uhalte, Rachel J. Hobson, Joseph A. Marsh, Caroline F. Wright, Helen V. Firth
Format: Article
Language:English
Published: BMC 2024-11-01
Series:Genome Medicine
Subjects:
Disease mechanism
Gene curation
Genomic variant filtering
Online Access:https://doi.org/10.1186/s13073-024-01398-1
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