Article

GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders

2025-03-06

Abstract excerpt

<h4>ABSTRACT</h4> Comprehensively characterizing genotype-phenotype correlations (GPCs) in Mendelian disease would create new opportunities for improving clinical management and understanding disease biology. However, heterogeneous approaches to data sharing, reuse, and analysis have hindered progress in the field. We developed Genotype Phenotype Evaluation of Statistical Association (GPSEA), a software package th...

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Literature Corpus work: b8e45145-9ddc-560a-8553-b86df4eaa2fc
DOI: 10.1101/2025.03.05.25323315

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