Author

Steven Smit

University of TartuORCID 0000-0002-3791-635XUnclaimed 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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Organism:human· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Approach:benchmark study· 1 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Approach:deep learning· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Georgi HudjashoviD· 2 shared Kristi KrebsiD· 2 shared Lili A. MilaniiD· 2 shared Maarja JõelooiD· 2 shared Mait MetspaluiD· 2 shared Anastassia KoldeiD· 1 shared Andres MetspaluiD· 1 shared Annely Allik· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersBioinformatics

Georgi HudjashovORCID

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2 papers

Recent·Most cited

Detecting CYP2C19 deletions from genotyping array signals using neural networks

Burak Yelmen, Robin J. Hofmeister, Viido Kaur Lutsar, Marc Finianos, Benjamin C. Stone, Maarja Jõeloo, Kristi Krebs, Paula Ann Kivistik, Steven Smit, Mait Metspalu, Georgi Hudjashov, Lili A. Milani

This paper develops a neural network model, nnCNV, to detect CYP2C19 deletions from genotyping array signals, achieving higher accuracy than existing methods.

bioRxiv · Aug 25, 2026 · PreprintBioinformatics

From Biobanking to Personalized Medicine: the journey of the Estonian Biobank

Lili A. Milani, Maris Alver, Sven Laur, Sulev Reisberg, Toomas Haller, Oliver Aasmets, Erik Abner, Helene Alavere, Annely Allik, Tarmo Annilo, Krista Fischer, Georgi Hudjashov, Maarja Jõeloo, Mart Kals, Liis Karo-Astover, , Andres Metspalu

The paper reviews the Estonian Biobank's role in advancing genomics research and personalized medicine through its comprehensive data and translational focus.

medRxiv · Sep 22, 2024 · PreprintGenetic & Genomic Medicine