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Publications

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

Rekerle L, Danis D, Rehburg F, et al. GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2025.03.05.25323315

SingleBrain: A Meta-Analysis of Single-Nucleus eQTLs Linking Genetic Risk to Brain Disorders.

Jang B, Bp K, Tokolyi A, et al. SingleBrain: A Meta-Analysis of Single-Nucleus eQTLs Linking Genetic Risk to Brain Disorders. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2025.03.06.25323424

Association Between Sleep Duration and Cognitive Frailty in Older Chinese Adults: Prospective Cohort Study.

Cai R, Chao J, Gao C, Gao L, Hu K, Li P. Association Between Sleep Duration and Cognitive Frailty in Older Chinese Adults: Prospective Cohort Study. JMIR aging. 2025. doi:10.2196/65183

Asian diversity in human immune cells.

Kock KH, Tan LM, Han KY, et al. Asian diversity in human immune cells. Cell. 2025. doi:10.1016/j.cell.2025.02.017

Recurrent breakpoints in the BRD4 locus reduce toxicity associated with gene amplification.

Wala J, Dalin S, Webster S, et al. Recurrent breakpoints in the BRD4 locus reduce toxicity associated with gene amplification. Cell genomics. 2025:100815. doi:10.1016/j.xgen.2025.100815

DNA hypermethylation of MED1 and MED23 as early diagnostic biomarkers for unsolved issues in atrial fibrillation.

Schiano C, Infante T, Benincasa G, et al. DNA hypermethylation of MED1 and MED23 as early diagnostic biomarkers for unsolved issues in atrial fibrillation. International journal of cardiology. 2025:133179. doi:10.1016/j.ijcard.2025.133179

Foundation models for generalizable electrocardiogram interpretation: comparison of supervised and self-supervised electrocardiogram foundation models.

Nolin-Lapalme A, Sowa A, Delfrate J, et al. Foundation models for generalizable electrocardiogram interpretation: comparison of supervised and self-supervised electrocardiogram foundation models. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2025.03.02.25322575

A multi-metabolite signature robustly predicts long-term mortality in the PREDIMED trial and several US cohorts.

Fernández-Duval G, Razquin C, Wang F, et al. A multi-metabolite signature robustly predicts long-term mortality in the PREDIMED trial and several US cohorts. Metabolism: clinical and experimental. 2025:156195. doi:10.1016/j.metabol.2025.156195

De novo detection of somatic variants in high-quality long-read single-cell RNA sequencing data.

Dondi A, Borgsmüller N, Ferreira PF, et al. De novo detection of somatic variants in high-quality long-read single-cell RNA sequencing data. Genome research. 2025. doi:10.1101/gr.279281.124

Comparative structural insights and functional analysis for the distinct unbound states of Human AGO proteins.

Kakoulidis P, Theotoki EI, Pantazopoulou VI, et al. Comparative structural insights and functional analysis for the distinct unbound states of Human AGO proteins. Scientific reports. 2025;15(1):9432. doi:10.1038/s41598-025-91849-5