Author

Claudia Lamina

Innsbruck Medical UniversityORCID 0000-0002-5398-5806Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:GWAS / association mapping· 3 Assay:GWAS summary statistics· 3 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Florian KronenbergiD· 4 shared Annette PetersiD· 3 shared Stefan CoassiniD· 3 shared Konstantin StrauchiD· 2 shared Sebastian SchönherriD· 2 shared Silvia Di MaioiD· 2 shared Thomas MeitingeriD· 2 shared Adnan KastratiiD· 1 shared

Activity by Year

2019-2024 · peak 2/yr

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10 top collaborators · 33 mutual co-author links

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4 shared papersGenetics

Florian KronenbergORCID

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4 papers

Recent·Most cited

BioinformaticsNAR Genomics and BioinformaticsPeer-reviewedJan 5, 2024

Performing highly parallelized and reproducible GWAS analysis on biobank-scale data

Sebastian Schönherr, Johanna F. Schachtl‐Riess, Silvia Di Maio…·Lukas Forer

The paper presents a Nextflow pipeline for scalable and reproducible GWAS analysis on large biobank datasets, validated against published datasets and tested on HPC and cloud infrastructures.

7 citations

humanGWAS summary statistics

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GeneticsGenome MedicinePeer-reviewedAug 21, 2020

Investigation of an LPA KIV-2 nonsense mutation in 11,000 individuals: the importance of linkage disequilibrium structure in LPA genetics.

Silvia Di Maio, Rebecca Grüneis, Gertraud Streiter…·Stefan Coassin

The paper investigates the LPA KIV-2 nonsense mutation R21X in 11,000 individuals, finding it associated with lower Lp(a) levels and linked to a splice mutation, highlighting the importance of LD structure in LPA genetics.

40 citationstop 4%

humanGWAS summary statistics

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GeneticsPLoS ONEPeer-reviewedApr 28, 2020

A genome-wide analysis of DNA methylation identifies a novel association signal for Lp(a) concentrations in the LPA promoter

Stefan Coassin, Natascha Hermann‐Kleiter, Margot Haun…·Claudia Lamina

The paper identifies a DNA methylation site in the LPA promoter associated with Lp(a) levels and shows that a SNP at this site influences Lp(a) through direct genetic effect, not methylation.

13 citations

humanDNA methylation

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GeneticsbioRxivPreprintJan 23, 2019

Cis-epistasis at the LPA locus and risk of coronary artery disease

Lingyao Zeng, Nazanin Mirza‐Schreiber, Claudia Lamina…·Heribert Schunkert

The paper identifies cis-epistasis at the LPA locus involving two SNPs that interact to modulate coronary artery disease risk and related traits.

1 citation

humanGWAS summary statistics

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