This paper introduces quantitative genetic scoring (QGS) to create quantitative genetic variables from arbitrary regions, showing it can reduce genetic data by >98% while explaining phenotypic variance across different granularities.

bioRxiv · Dec 15, 2020 · PreprintBioinformatics

Common risk variants identified in autism spectrum disorder

Jakob Grove, BUPGEN, Stephan Ripke, Thomas D. Als, Manuel Mattheisen, Raymond Kenney Walters, Hyejung Won, Jonatan Pallesen, Esben Agerbo, Ole A. Andreassen, Richard Anney, Swapnil Awashti, Rich Belliveau, Francesco Bettella, Joseph D. Buxbaum, , Anders Dupont Børglum

This study identifies five genome-wide significant loci and seven shared with other traits in a large ASD GWAS, highlighting polygenic heterogeneity and the value of large-scale GWAS in ASD.

Nature Genetics · Feb 25, 2019Peer-reviewedGenetics

Disentangling genetically confounded polygenic associations between Attention-Deficit/Hyperactivity Disorder, literacy and language

Ellen Verhoef, Ditte Demontis, Stephen Burgess, Chin Yang Shapland, Philip S. Dale, Aysu Okbay, Benjamin M. Neale, Stephen V. Faraone, Esben Agerbo, Thomas D. Als, Marie Bækved-Hansen, Rich Belliveau, Anders Dupont Børglum, Jonas Bybjerg‐Grauholm, Felecia E. Cerrato, , Beaté St Pourcain

The paper investigates polygenic associations between ADHD and literacy/language abilities, finding that genetic confounding with educational attainment masks ADHD-specific reading impairments.

Translational Psychiatry · Jan 24, 2019Peer-reviewedGenetics

Genome-wide association study implicates CHRNA2 in cannabis use disorder

Ditte Demontis, Veera Manikandan Rajagopal, Thomas D. Als, Jakob Grove, Jonatan Pallesen, Carsten Hjorthøj, Per Qvist, Jane Christensen, Jonas Bybjerg‐Grauholm, Marie Bækvad‐Hansen, Laura M. Huckins, Eli A. Stahl, Allan Timmermann, Esben Agerbo, David M. Hougaard, , Anders Dupont Børglum

This paper identifies a genome-wide significant risk locus for cannabis use disorder, implicating CHRNA2 and linking it to cognitive performance.

European Neuropsychopharmacology · Jan 1, 2019Peer-reviewedGenomics

Evidence for the Scarr-Rowe effect on genetic expressivity in a large US sample.

Michael A. Woodley of Menie, Jonatan Pallesen, Matthew Alexandar Sarraf

The paper examines the Scarr-Rowe effect using the Wisconsin Longitudinal Study, finding increased genetic expressivity of polygenic scores on IQ with higher parental socioeconomic status.

Twin Research and Human Genetics · Dec 1, 2018Peer-reviewedGenomics

Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

Ditte Demontis, Raymond Kenney Walters, Joanna Martin, Manuel Mattheisen, Thomas D. Als, Esben Agerbo, Gísli Baldursson, Rich Belliveau, Jonas Bybjerg‐Grauholm, Marie Bækvad‐Hansen, Felecia E. Cerrato, Kimberly Chambert, Claire Churchhouse, Ashley Dumont, Nicholas Eriksson, , Benjamin M. Neale

Genome-wide association meta-analysis of 20,183 ADHD cases and 35,191 controls finds 12 significant loci; signal concentrates in conserved regions, constrained genes, and CNS regulatory elements.

Nature Genetics · Nov 23, 2018Peer-reviewedGenetics✦ In-depth digest

The neurobiology of BRD1 implicates sex-biased dysregulation of nuclear receptor signaling in mental disorders

Anto Praveen Rajkumar, Per Qvist, Sanne Hage Larsen, Ross M Lazarus, Jonatan Pallesen, Nicoletta Nava, Gudrun Winther, Nico Liebenberg, Veerle Paternoster, Tue Fryland, Johan Palmfeldt, Kim Fejgin, Arne Mørk, Mette Nyegaard, Bente Pakkenberg, , Anders Dupont Børglum

This study investigates the role of BRD1 in sex-biased nuclear receptor signaling and its implications in mental disorders using mouse models and gene expression analysis.

bioRxiv · Apr 7, 2018 · PreprintNeuroscience