Author

Margit Nõukas

University of Tartu

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 3 Bioinformatics· 1 Genomics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 5 Research Focus:GWAS / association mapping· 4 Approach:statistical model· 4 Assay:GWAS summary statistics· 3 Research Focus:fine-mapping· 2 Assay:whole-genome sequencing· 2 Approach:benchmark study· 1 Assay:bulk RNA-seq· 1

Frequent Co-Authors

Mart KalsiD· 3 shared Reedik MägiiD· 3 shared Urmo VõsaiD· 3 shared Andres MetspaluiD· 2 shared Eleonora PorcuiD· 2 shared Jaak ViloiD· 2 shared Kelli LehtoiD· 2 shared Lili A. MilaniiD· 2 shared

Activity by Year

2018-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

3 shared papersGenetic & Genomic Medicine

Mart KalsORCID

Mutual co-authors in cluster

Author profile →

5 papers

Recent·Most cited

Combinatorial effects of gene dosage, polygenic background and environment on complex traits

Molly Sacks, Marieke Klein, Tim Bigdeli, Mart Kals, Matthew T. Oetjens, Florian Bénitière, Jacquelyn Johnson, Adam Maihofer, Margit Nõukas, Michael Francis, Bryan Gorman, Iskander Said, Giulio Genovese, Georgios Voloudakis, Kyriacos Markianos, , Jonathan L. Sebat

The paper examines how gene dosage, polygenic background, and environment influence complex traits like height and BMI using large-scale data from multiple cohorts.

medRxiv · May 1, 2026 · PreprintGenetic & Genomic Medicine

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

A cross-disorder dosage sensitivity map of the human genome

Ryan L. Collins, Joseph Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda C. Brandon, Christopher Lauricella, Lide Han, Theodore J. Morley, Lisa‐Marie Niestroj, Jacob C. Ulirsch, Selin Everett, Daniel P. Howrigan, Philip M. Boone, Jack M. Fu, Konrad J. Karczewski, , Michael E. Talkowski

This study identifies 114 genome-wide significant rare CNV-disease associations across 30 neurological disorders, revealing 38 novel triplosensitive genes and developing a model to predict dosage sensitivity.

Cell · Aug 1, 2022Peer-reviewedGenetic & Genomic Medicine

Omics-informed CNV calls reduce false positive rate and improve power for CNV-trait associations

Maarja Lepamets, Chiara Auwerx, Margit Nõukas, Annique Claringbould, Eleonora Porcu, Mart Kals, Tuuli Jürgenson, Andrew P. Morris, Urmo Võsa, Murielle Bochud, Silvia Stringhini, Cisca Wijmenga, Lude Franke, Hedi Peterson, Jaak Vilo, , Zoltán Kutalik

The paper introduces an omics-informed quality score to improve CNV detection and association analysis by reducing false positives and increasing statistical power.

Human Genetics and Genomics Advances · Aug 1, 2022Peer-reviewedBioinformatics

Large-scale genome-wide association meta-analysis of endometriosis reveals 13 novel loci and genetically-associated comorbidity with other pain conditions

Nilüfer Rahmioğlu, Banasik Karina, Paraskevi Christofidou, D. Larson Rebecca, Geneviève Galarneau, Giri Ayush, Stuart MacGregor, Sally Mortlock, Sapkota Yadav, Schork J Andrew, Marta Sobalska‐Kwapis, Lilja Stefansdottir, Turman Constance, Outi Uimari, Sosuke Adachi, , Hapangama K Dharani

This study identifies 13 novel genetic loci associated with endometriosis through a large GWAS meta-analysis and finds genetic links to other pain-related conditions.

bioRxiv · Sep 7, 2018 · PreprintGenomics