Author

Mikaella Kontopoulou

Cyprus Institute of Neurology and GeneticsORCID 0009-0002-5398-6953Unclaimed 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· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Carsten Werner LedereriD· 1 shared Coralea StephanouiD· 1 shared Maria XenophontosiD· 1 shared Petros KountourisiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

4 top collaborators · 6 mutual co-author links

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1 shared paperGenetics

Carsten Werner LedererORCID

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1 paper

Recent·Most cited

Analyzing globin gene variation in gnomAD: implications for variant interpretation in hemoglobinopathies

Mikaella Kontopoulou, Maria Xenophontos, Carsten Werner Lederer, Coralea Stephanou, Petros Kountouris

The paper assesses changes in globin gene variant population evidence between gnomAD v2.1.1 and v4.1, showing increased variant discovery and improved ACMG/AMP criterion fulfillment.

bioRxiv · Sep 19, 2026 · PreprintGenetics