Author

Sophie Wharrie

Aalto UniversityORCID 0000-0003-2593-8081Unclaimed 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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Research Focus:benchmarking· 2 Research Focus:genome assembly· 1 Assay:GWAS summary statistics· 1 Organism:human· 1 Research Focus:polygenic risk· 1 Approach:simulation· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Andrea GannaiD· 2 shared Christoph LippertiD· 2 shared Pekka MarttineniD· 2 shared Remo MontiiD· 2 shared Alicia R. MartiniD· 1 shared Aoife McMahoniD· 1 shared Benjamin WingfieldiD· 1 shared Bradley S. JermyiD· 1 shared

Activity by Year

2023-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 40 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Andrea GannaORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 20, 2023

Evaluation of polygenic scoring methods in five biobanks reveals greater variability between biobanks than between methods and highlights benefits of ensemble learning

Remo Monti, Lisa Eick, Georgi Hudjashov…·Christoph Lippert

This study evaluates polygenic scoring methods across five biobanks and finds that biobank differences outweigh method differences, with ensemble learning improving performance.

6 citations

humanwhole-genome sequencing

𝕏 PostBluesky

BioinformaticsBioinformaticsPeer-reviewedAug 30, 2023

HAPNEST: efficient, large-scale generation and evaluation of synthetic datasets for genotypes and phenotypes

Sophie Wharrie, Zhiyu Yang, Vishnu Raj…·Andrea Ganna

HAPNEST generates and evaluates large-scale synthetic genotype and phenotype datasets for polygenic risk score analysis.

30 citationstop 3%

GWAS summary statisticssimulation

𝕏 PostBluesky