Author

Rita Katharina Schmutzler

University of CologneORCID 0000-0001-8160-4348Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Assay:GWAS summary statistics· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Eric HahneniD· 2 shared Joe DennisiD· 2 shared Stig E. BojeseniD· 2 shared A. Heather EliasseniD· 1 shared ABCTB Investigators· 1 shared Agnes JageriD· 1 shared Alicja Łukomska· 1 shared Allison W. KurianiD· 1 shared

Activity by Year

2021-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Eric HahnenORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineCancer Epidemiology Biomarkers & PreventionPeer-reviewedJan 13, 2023

Incorporating alternative Polygenic Risk Scores into the BOADICEA breast cancer risk prediction model

Nasim Mavaddat, Lorenzo Ficorella, Tim J. Carver…·Douglas F. Easton

This paper evaluates methods to incorporate alternative polygenic risk scores into the BOADICEA breast cancer risk prediction model, finding that retrospective likelihood approaches provide more accurate estimates.

54 citationstop 1%

humanGWAS summary statistics

𝕏 PostBluesky

GeneticsbioRxivPreprintMay 20, 2021

Rare copy number variants (CNVs) and breast cancer risk

Joe Dennis, Jonathan P. Tyrer, Logan C. Walker…·Rita Katharina Schmutzler

The paper analyzes rare copy number variants (CNVs) in breast cancer cases and controls, identifying associations with known and novel susceptibility loci.

DOI 10.1101/2021.05.20.444828

humanwhole-genome sequencing

𝕏 PostBluesky