Article
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
American journal of human genetics - 8 Jan 2026
Rekerle Lauren, Danis Daniel, Rehburg Filip, Graefe Adam S L, Bily Viktor, Caballero-Oteyza Andrés, Cacheiro Pilar, Chimirri Leonardo, Chong Jessica X, Connelly Evan, de Vries Bert B A, Dingemans Alexander J M, Duyzend Michael H, Freiberger Tomas, Gehle Petra, Groza Tudor, Hansen Peter, Jacobsen Julius O B, Klocperk Adam, Ladewig Markus S, Love Michael I, Marcello Allison J, Mordhorst Alexander, Munoz-Torres Monica C, Reese Justin, Schuetz Catharina, Smedley Damian, Strauss Timmy, Vladyka Ondrej, Zocche David, Thun Sylvia, Mungall Christopher J, Haendel Melissa A, Robinson Peter N
Abstract excerpt
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 Statistical Evaluation of Associations (GPSEA), a software package that leverages the...
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