Author

Michael J. Madsen

University of UtahORCID 0000-0002-7200-6706Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:bulk RNA-seq· 2 Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2 Research Focus:GWAS / association mapping· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Nicola J. CampiD· 3 shared Alun ThomasiD· 2 shared Mohamed E. SalamaiD· 2 shared Venkatesh RajamanickamiD· 2 shared Andreas HadjisavvasiD· 1 shared Anna González‐NeiraiD· 1 shared Anna JakubowskaiD· 1 shared Annika LindblomiD· 1 shared

Activity by Year

2018-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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3 shared papersGenetics

Nicola J. CampORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineGenome MedicinePeer-reviewedMay 18, 2022

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

Leila Dorling, Sara Carvalho, Jamie Allen…·Javier J. Benitez

The paper assesses breast cancer risks linked to rare missense variants in five susceptibility genes using logistic and mixture models, finding varying risk contributions across genes.

55 citationstop 2%

humanbulk RNA-seq

𝕏 PostBluesky

GeneticsCancer Epidemiology Biomarkers & PreventionPeer-reviewedApr 12, 2018

Reparameterization of PAM50 expression identifies novel breast tumor dimensions and leads to discovery of a breast cancer susceptibility locus at 12q15

Michael J. Madsen, Stacey Knight, Carol Sweeney…·Nicola J. Camp

The paper reparameterizes PAM50 gene expression into tumor dimensions and identifies a breast cancer susceptibility locus at 12q15 through genetic analysis of high-risk pedigrees.

9 citations

humanbulk RNA-seq

𝕏 PostBluesky

GeneticsPLoS GeneticsPeer-reviewedFeb 1, 2018

Novel pedigree analysis implicates DNA repair and chromatin remodeling in Multiple Myeloma risk

Rosalie G. Waller, Todd M. Darlington, Xiaomu Wei…·Nicola J. Camp

This paper introduces a new pedigree analysis method to identify risk variants for complex diseases, applying it to Multiple Myeloma and finding two genes associated with DNA repair and chromatin remodeling.

42 citations

humanwhole-exome sequencing

𝕏 PostBluesky