Author

Mona Ameri Chalmer

Copenhagen University HospitalORCID 0000-0003-4609-1895Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Bioinformatics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Assay:GWAS summary statistics· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Approach:deep learning· 1 Assay:electronic health records· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Karina BanasikiD· 3 shared Lisette J. A. KogelmaniD· 3 shared Thomas Folkmann HanseniD· 3 shared Christian ErikstrupiD· 2 shared Henrik UllumiD· 2 shared Jes OleseniD· 2 shared Kāri StefánssoniD· 2 shared Kristoffer Sølvsten BurgdorfiD· 2 shared

Activity by Year

2021-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Karina BanasikORCID

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3 papers

Recent·Most cited

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

Genetic & Genomic MedicineNature GeneticsPeer-reviewedFeb 1, 2022

Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles

Heidi M Hautakangas, Bendik Slagsvold Winsvold, Sanni Ruotsalainen…·Matti Pirinen

This GWAS identifies 123 migraine risk loci, including subtype-specific variants and novel targets, supporting neurovascular mechanisms in migraine.

400 citationstop 1%

humanGWAS summary statistics

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Genetic & Genomic MedicinemedRxivPreprintDec 20, 2021

Rare risk variants associate with epigenetic dysregulation in migraine

Tanya Ramdal Techlo, Mona Ameri Chalmer, Peter Loof Møller…·Thomas Folkmann Hansen

The paper identifies rare variants in the ASTN2 locus associated with migraine, independent of GWAS findings, and proposes a role for Polycomb Response Elements in migraine etiology.

DOI 10.1101/2021.12.20.21268001

humanwhole-genome sequencing

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