The paper assesses Hardy-Weinberg equilibrium deviations in whole genome sequence data from the 1000 Genomes Project, identifying SNPs with technical rather than biological deviations.

PLoS Genetics · Sep 15, 2026Peer-reviewedGenomics

Internalizing Symptoms Associate with the Pace of Epigenetic Aging in Childhood

Marieke S. Tollenaar, Roseriet Beijers, Elika Garg, Thao T. T. Nguyen, David T S Lin, Julia L. MacIsaac, Idan Shalev, Michael Steffen Kobor, Michael Joseph Meaney, Kieran J. O’Donnell, Carolina de Weerth

This study finds that internalizing symptoms in early childhood predict higher epigenetic age acceleration at age 6, which is linked to later internalizing symptoms.

Biological Psychology · Jan 18, 2021Peer-reviewedGenetics

Variably methylated regions in the newborn epigenome: environmental, genetic and combined influences

Darina Czamara, Gökçen Eraslan, Christian Magnus Page, Jari M. T. Lahti, Marius Lahti‐Pulkkinen, Esa K Hämäläinen, Eero Kajantie, Hannele M. Laivuori, Pia Villa, Rebecca M. Reynolds, Wenche Nystad, Siri E. Håberg, Stephanie J. London, Kieran J. O’Donnell, Elika Garg, , Robert M. Maier

The paper examines how genetic and environmental factors influence DNA methylation at variably methylated regions in neonatal blood, finding that combined effects best explain methylation variability.

Nature Communications · Jun 11, 2019Peer-reviewedGenetics

A biologically-informed polygenic score identifiesendophenotypes and clinical conditions associated with the insulinreceptor function on specific brain regions

Shantala A. Hari Dass, Kathryn McCracken, Irina Pokhvisneva, Lawrence M. Chen, Elika Garg, Thao T. T. Nguyen, Zihan Wang, Bárbara Barth, Moein Yaqubi, Lisa M. McEwen, Julie L. MacIsaac, Josie C. Diorio, Michael Steffen Kobor, Kieran J. O’Donnell, Michael Joseph Meaney, Patrícia Pelufo Silveira

The paper introduces a biologically informed polygenic score for insulin receptor-related genes in mesocorticolimbic regions and shows it better predicts childhood impulsivity and early addiction risk than conventional scores.

EBioMedicine · Mar 26, 2019Peer-reviewedNeuroscience

PRS-on-Spark: a novel, efficient and flexible approach for generating polygenic risk scores

Lawrence M. Chen, Nelson Yao, Elika Garg, Yuecai Zhu, Thao T. T. Nguyen, Irina Pokhvisneva, Shantala A. Hari Dass, Eva Unternäehrer, Hélène Gaudreau, Marie Forest, Lisa M. McEwen, Julia L. MacIsaac, Michael Steffen Kobor, Celia M.T. Greenwood, Patrícia Pelufo Silveira, , Kieran J. O’Donnell

PRS-on-Spark generates polygenic risk scores efficiently, supporting diverse data inputs and improving variance explained for major depression.

BMC Bioinformatics · Aug 8, 2018Peer-reviewedBioinformatics