Author

Lise Wegner Thørner

Copenhagen University HospitalORCID 0000-0003-4391-4956Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:GWAS summary statistics· 4 Organism:human· 4 Research Focus:GWAS / association mapping· 3 Approach:statistical model· 3 Research Focus:benchmarking· 1 Approach:deep learning· 1 Assay:electronic health records· 1 Research Focus:polygenic risk· 1

Frequent Co-Authors

Henrik UllumiD· 4 shared Thomas Mears WergeiD· 3 shared Adam SantanielloiD· 2 shared An GorisiD· 2 shared Ashley Harris BeechamiD· 2 shared Bénédicte DuboisiD· 2 shared Benjamin KnieriD· 2 shared Bernhard HemmeriD· 2 shared

Activity by Year

2018-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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4 shared papersGenetics

Henrik UllumORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicineNature GeneticsPeer-reviewedOct 5, 2023

Genome-wide association study of placental weight in 179,025 children and parents reveals distinct and shared genetic influences between placental and fetal growth

Robin N. Beaumont, Christopher J. Flatley, Marc Vaudel…·Pål R. Njølstad

This study identifies 40 genetic loci associated with placental weight using GWAS in 179,025 children and parents, revealing shared and distinct genetic influences with fetal growth.

73 citationstop 1%

humanGWAS summary statistics

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BioinformaticsNucleic Acids ResearchPeer-reviewedMay 24, 2023

Deep integrative models for large-scale human genomics

Arnor Ingi Sigurdsson, Ioannis Evangelos Louloudis, Karina Banasik…·Simon Rasmussen

The paper introduces a deep learning framework for polygenic risk score prediction, showing improved performance over traditional methods for various diseases.

36 citationstop 3%

humanGWAS summary statistics

𝕏 PostBluesky

GeneticsSciencePeer-reviewedSep 26, 2019

The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility

Nikolaos A. Patsopoulos, Sergio E. Baranzini, Adam Santaniello…·John W. Thorpe

The paper reports a detailed genetic and genomic map of multiple sclerosis, identifying susceptibility genes in peripheral immune cells and brain-resident microglia.

1,490 citationstop 1%

humanGWAS summary statistics

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GeneticsCellPeer-reviewedOct 18, 2018

Low frequency and rare coding variation contributes to multiple sclerosis risk

Mitja Mitrovič, Nikolaos A. Patsopoulos, Ashley Harris Beecham…·Hakon H. Hakonarson

The paper identifies low-frequency coding variants contributing to multiple sclerosis risk using a large case-control study.

173 citationstop 1%

humanGWAS summary statistics

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