Author

Rory J. Olson

Mayo ClinicORCID 0000-0003-0677-0447Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1

Frequent Co-Authors

Alena Jahodová· 1 shared Allan BayatiD· 1 shared Allyn McConkie‐RoselliD· 1 shared Andrea Paras· 1 shared Anita DattaiD· 1 shared Anju ShuklaiD· 1 shared Barbara K. BurtoniD· 1 shared Brenda E. PorteriD· 1 shared

Activity by Year

2022-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alena Jahodová

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2 papers

Recent·Most cited

BioinformaticsbioRxivPreprintMay 19, 2022

Detection of outlier methylation from bisulfite sequencing data with novel Bioconductor package BOREALIS

Gavin R. Oliver, Garrett Jenkinson, Rory J. Olson…·Eric W. Klee

BOREALIS identifies outlier methylation sites in bisulfite sequencing data from rare disease patients, linking them to phenotypically relevant genes.

4 citations

humanDNA methylation

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Genetic & Genomic MedicinemedRxivPreprintApr 26, 2022

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

Hannah C. Happ, Lynette Grant Sadleir, Matthew Zemel…·Gemma L. Carvill

The paper reports a cohort of 17 patients with pathogenic KCNH5 variants causing neurodevelopmental disorders and epilepsy, identifying genotype-phenotype correlations.

DOI 10.1101/2022.04.26.22274147

humanstatistical model

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