The paper develops a multi-task neural network to predict blood metabolite profiles by separating covariate, genetic, and joint effects, finding nonlinear covariate modeling improves prediction.

bioRxiv · Sep 14, 2026 · PreprintGenomics

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

Uncovering the Shared Genetic Components of Thyroid Disorders and Reproductive Health

Jéssica Figuerêdo, Kristi Krebs, Natàlia Pujol‐Gualdo, Toomas Haller, Urmo Võsa, Vallo Volke, Triin Laisk, Reedik Mägi, Andres Metspalu, Lili A. Milani, Tõnu Esko, Mari Nelis, Georgi Hudjashov, Raivo Kolde, Sven Laur, , Jaak Vilo

This study identifies shared genetic components between thyroid disorders and reproductive health using GWAS and genetic correlation analysis in 743,088 individuals.

European Journal of Endocrinology · Jul 27, 2024Peer-reviewedGenetic & Genomic Medicine

Mapping of the gene network that regulates glycan clock of ageing

Azra Frkatović-Hodžić, Karlo Miškec, Anika Mijakovac, Arina V. Nostaeva, Sodbo Sharapov, Arianna Landini, Toomas Haller, Erik B. van den Akker, Sapna Sharma, Rafael R. C. Cuadrat, Massimo Mangino, Yong Li, Toma Keser, Najda Rudman, Tamara Štambuk, , Gordan Lauc

The paper identifies 16 genomic loci associated with IgG galactosylation through GWAS and validates three genes using CRISPR/dCas9 in an in vitro system.

Aging · Dec 26, 2023Peer-reviewedGenetic & Genomic Medicine

Genome-wide characterization of circulating metabolic biomarkers reveals substantial pleiotropy and novel disease pathways

Minna K. Karjalainen, Savita Karthikeyan, Clare Oliver‐Williams, Eeva Sliz, Elias Allara, Praveen Surendran, Weihua Zhang, Pekka Jousilahti, Kati Kristiansson, Veikko V Salomaa, Matt Goodwin, David A. Hughes, Michael Boehnke, Lilian Fernandes Silva, Xianyong Yin, , Johannes Kettunen

This study identifies 400+ genetic loci associated with circulating metabolic traits and highlights pleiotropy and novel disease pathways.

medRxiv · Oct 20, 2022 · PreprintGenetic & Genomic Medicine