Explanipedia

Genome-wide association study of delay discounting identifies 11 loci and reveals transdiagnostic associations across mental and physical health Open

Renata B. Cupertino, Shreya R. Pakala, Pierre Fontanillas, Mariela Jennings, Jane Yang , et al. · 2025

Delay discounting (DD), a person’s preference for smaller immediate rewards over larger delayed rewards, is a heritable trait that is associated with psychiatric and physical outcomes, yet the biological mechanisms underlying these links a…

Large language models identify causal genes in complex trait GWAS Open

Wei Wang, Sotiris Karagounis, Xin Wang, Anna C. Reisetter, Adam Auton · 2025

Pinpointing causal genes at genome-wide association study (GWAS) loci remains a major bottleneck. Existing literature-mining approaches are often limited in accuracy and scalability. We show that large language models (LLMs) can accurately…

Dyslexia Polygenic Index and Socio-Economic Status Interaction Effects on Reading Skills in Australia and the United Kingdom Open

Diana Bicona, Hayley S. Mountford, Elinor C. Bridges, Pierre Fontanillas, Nicholas G. Martin , et al. · 2025

Multivariate genome-wide association analysis of dyslexia and quantitative reading skill improves gene discovery Open

Hayley S. Mountford, Else Eising, Pierre Fontanillas, Adam Auton, Stella Aslibekyan , et al. · 2025

Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior Open

Andrea Ganna, Karin J. H. Verweij, Michel G. Nivard, Robert Maier, Robbee Wedow , et al. · 2025

Twin and family studies have shown that same-sex sexual behavior is partly genetically influenced, but previous searches for specific genes involved have been underpowered. We performed a genome-wide association study (GWAS) on 477,522 ind…

Credible set is sensitive to imputation quality and missing variants Open

Yanyu Liang, Adam Auton, Xin Wang · 2024

Bayesian fine-mapping to obtain credible sets has been widely applied post GWAS to pinpoint causal variants. The calculation of credible sets generally assumes that all variants have been equally well genotyped, which is often not the case…

Analysis of 3.6 million individuals yields minimal evidence of pairwise genetic interactions for height Open

M. Reza Jabalameli, Michael V. Holmes, David A. Hinds, Adam Auton, Pierre Fontanillas · 2024

Adult height is a highly heritable polygenic trait with heritability attributable to thousands of independent variants. Large-scale studies have been able to detect genetic variants with contributions to height in the range of approximatel…

Evaluating genetically-predicted causal effects of lipoprotein(a) in human diseases: a phenome-wide Mendelian randomization study Open

Jingchunzi Shi, Suyash Shringarpure, David A. Hinds, Adam Auton, Michael V. Holmes · 2024

Background Lipoprotein(a) (Lp[a]) is a circulating plasma lipoprotein that is emerging as an important independent risk factor for vascular disease. Lp(a) levels are 75-90% heritable, predominantly determined by copy number variation and s…

Large language models identify causal genes in complex trait GWAS Open

Suyash Shringarpure, Wei Wang, Sotiris Karagounis, Xin Wang, Anna C. Reisetter , et al. · 2024

Identifying causal genes at genome-wide association study (GWAS) loci remains a major challenge. Literature evidence for disease-gene co-occurrence, whether through automated approaches or human expert annotation, is one way of nominating …

The genetic architecture of dog ownership: large-scale genome-wide association study in 97,552 European-ancestry individuals Open

Tong Gong, Robert Karlsson, Shuyang Yao, Patrik K. E. Magnusson, Olesya Ajnakina , et al. · 2024

Dog ownership has been associated with several complex traits, and there is evidence of genetic influence. We performed a genome-wide association study of dog ownership through a meta-analysis of 31,566 Swedish twins in 5 discovery cohorts…

Genetic analysis and natural history of Parkinson’s disease due to the <i>LRRK2</i> G2019S variant Open

Matthew J. Kmiecik, Steven J. Micheletti, Daniella Coker, Karl Heilbron, Jingchunzi Shi , et al. · 2024

The LRRK2 G2019S variant is the most common cause of monogenic Parkinson’s disease (PD); however, questions remain regarding the penetrance, clinical phenotype and natural history of carriers. We performed a 3.5-year prospective longitudin…

A phenome-wide association and Mendelian randomisation study of alcohol use variants in a diverse cohort comprising over 3 million individuals Open

Mariela Jennings, José Jaime Martínez‐Magaña, Natasia S. Courchesne‐Krak, Renata B. Cupertino, Laura Vilar‐Ribó , et al. · 2024

MVJ, NCK, SBB, SSR and AAP were supported by T32IR5226 and 28IR-0070. SSR was also supported by NIDA DP1DA054394. NCK and RBC were also supported by R25MH081482. ASH was supported by funds from NIAAA K01AA030083. JLMO was supported by VA 1…

MUSSEL: Enhanced Bayesian polygenic risk prediction leveraging information across multiple ancestry groups Open

Jin Jin, Jianan Zhan, Jingning Zhang, Ruzhang Zhao, Jared O’Connell , et al. · 2024

Multivariate genome-wide association analysis of quantitative reading skill and dyslexia improves gene discovery Open

Hayley S. Mountford, Else Eising, Pierre Fontanillas, Adam Auton, Evan K. Irving-Pease , et al. · 2024

The ability to read is an important life skill and a major route to education. Individual differences in reading ability are influenced by genetic variation, with a heritability of 0.66 for word reading, estimated by twin studies. Until re…

Analysis of rare Parkinson’s disease variants in millions of people Open

Vanessa Pitz, Mary B. Makarious, Sara Bandrés‐Ciga, Hirotaka Iwaki, Stella Aslibekyan , et al. · 2024

Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma Open

Hélène Choquet, Chen Jiang, Jie Yin, Yuhree Kim, Thomas J. Hoffmann , et al. · 2024

Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease Open

Jonggeol Jeffrey Kim, Dan Vitale, Diego Véliz Otani, Michelle Mulan Lian, Karl Heilbron , et al. · 2023

Correlations in sleeping patterns and circadian preference between spouses Open

Rebecca C. Richmond, Laurence J Howe, Karl Heilbron, Samuel E. Jones, Junxi Liu , et al. · 2023

A polygenic risk score identifies undiagnosed cases of diabetes Open

Chris German, James R. Ashenhurst, Wei Wang, Julie M. Granka, Bertram L. Koelsch , et al. · 2023

Importance Twenty-three percent of 37.3M adults in the USA with diabetes are estimated to be undiagnosed, leading to potentially avoidable sequelae and morbidity. Objective To explore the utility of a polygenic risk score (PRS) at identify…

Prospective analysis of incident disease among individuals of diverse ancestries using genetic and conventional risk factors Open

Wei Wang, Nicholas Eriksson, Matthew K. McIntyre, Rafaela Bagur Quetglas, Bertram L. Koelsch , et al. · 2023

Background Human genetics provides opportunities for enhancing disease prediction through polygenic risk scores (PRS). Method We used a dataset from 23andMe (6.77M European, 1.30M Latine, and 0.45M African American individuals). Using cros…

A new method for multiancestry polygenic prediction improves performance across diverse populations Open

Haoyu Zhang, Jianan Zhan, Jin Jin, Jingning Zhang, Wenxuan Lu , et al. · 2023

A second update on mapping the human genetic architecture of COVID-19 Open

Masahiro Kanai, Shea J. Andrews, Mattia Cordioli, Christine Stevens, Benjamin M. Neale , et al. · 2023

GWAS of cataract in Puerto Ricans identifies a novel large-effect variant in ITGA6 Open

Jingchunzi Shi, Jared O’Connell, Barry Hicks, Wei Wang, Katarzyna Bryc , et al. · 2023

Cataract is a common cause of vision loss and affects millions of people worldwide. Genome-wide association studies (GWAS) and family studies of cataract have demonstrated a role for genetics in cataract susceptibility. However, most of th…

CADM2 is implicated in impulsive personality and numerous other traits by genome- and phenome-wide association studies in humans and mice Open

Sandra Sanchez‐Roige, Mariela Jennings, Hayley H. A. Thorpe, Jazlene E. Mallari, Lieke C van der Werf , et al. · 2023

Impulsivity is a multidimensional heritable phenotype that broadly refers to the tendency to act prematurely and is associated with multiple forms of psychopathology, including substance use disorders. We performed genome-wide association …

Author Correction: Discovery of 42 genome-wide significant loci associated with dyslexia Open

Catherine Doust, Pierre Fontanillas, Else Eising, Scott D. Gordon, Zhengjun Wang , et al. · 2023

Discovery of genomic loci associated with sleep apnea risk through multi-trait GWAS analysis with snoring Open

Adrián I. Campos, Nathan Ingold, Yunru Huang, Brittany L. Mitchell, Pik Fang Kho , et al. · 2022

Study Objectives Despite its association with severe health conditions, the etiology of sleep apnea (SA) remains understudied. This study sought to identify genetic variants robustly associated with SA risk. Methods We performed a genome-w…

Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects Open

Lynne Krohn, Karl Heilbron, Cornelis Blauwendraat, Regina H. Reynolds, Eric Yu , et al. · 2022

Rapid-eye movement (REM) sleep behavior disorder (RBD), enactment of dreams during REM sleep, is an early clinical symptom of alpha-synucleinopathies and defines a more severe subtype. The genetic background of RBD and its underlying mecha…

Discovery of 42 genome-wide significant loci associated with dyslexia Open

Catherine Doust, Pierre Fontanillas, Else Eising, Scott D. Gordon, Zhengjun Wang , et al. · 2022

Reading and writing are crucial life skills but roughly one in ten children are affected by dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up to 70%, yet few convincing genetic markers have been…

Author Correction: Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis Open

C. Scott Gallagher, Netta Mäkinen, Holly R. Harris, Nilüfer Rahmioğlu, Outi Uimari , et al. · 2022

Using a polygenic score in a family design to understand genetic influences on musicality Open

Laura W. Wesseldijk, Abdel Abdellaoui, Reyna L. Gordon, Stella Aslibekyan, Adam Auton , et al. · 2022

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