Results 121 to 130 of about 2,929,620 (353)

Polygenic Scores and Networks of Psychopathology Symptoms

JAMA Psychiatry
ImportanceStudies on polygenic risk for psychiatric traits commonly use a disorder-level approach to phenotyping, implicitly considering disorders as homogeneous constructs; however, symptom heterogeneity is ubiquitous, with many possible combinations of symptoms falling under the same disorder umbrella.
Piazza, Giulia G, Allegrini, Andrea G, Eley, Thalia C, Epskamp, Sacha, Fried, Eiko, Isvoranu, Adela-Maria, Roiser, Jonathan P, Pingault, Jean-Baptiste   +7 more
openaire   +3 more sources

Genomic Evaluation of Recombination in Small Highly Inbred Beef Cattle Populations

Animal Research and One Health, EarlyView.
The study characterizes recombination in small beef cattle populations, revealing higher rates in CGC composites compared to inbred Line 1 Herefords. It identifies significant SNP associations linked to recombination across various autosomes, highlighting complex polygenic influences, with implications for genetic diversity and breeding strategies ...
E. Hay, A. S. Ling
wiley   +1 more source

Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult‐Onset Still's Disease

Arthritis &Rheumatology, EarlyView.
Objective Adult‐onset Still disease (AOSD) is a systemic autoinflammatory disorder (AID) of unknown etiology. Genetic studies have been limited. Here, we conducted detailed genetic and inflammatory biomarker analysis of a large cohort with AOSD to investigate the underlying pathology and identify novel targets for potential treatment.
Joanne Topping, Leon Chang, Fatima Nadat, James A. Poulter, Alice Ibbotson, Samuel Lara‐Reyna, Christopher M. Watson, Clive Carter, Linda P. Pournara, Jan Zernicke, Rebecca L. Ross, Catherine Cargo, Paul A. Lyons, Kenneth G. C. Smith, Francesco Del Galdo, Jürgen Rech, Bruno Fautrel, Eugen Feist, Michael F. McDermott, Sinisa Savic, on behalf of the ImmunAID Consortium   +20 more
wiley   +1 more source

Early‐onset Alzheimer's disease explained by polygenic risk of late‐onset disease?

Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, 2023
Early‐onset Alzheimer's disease (AD) is highly heritable, yet only 10% of cases are associated with known pathogenic mutations. For early‐onset AD patients without an identified autosomal dominant cause, we hypothesized that their early‐onset disease ...
William G. Mantyh, J. Nicholas Cochran, Jared W. Taylor, Iris J. Broce, Ethan G. Geier, Luke W. Bonham, Ashlyn G. Anderson, Daniel W. Sirkis, Renaud La Joie, Leonardo Iaccarino, Kiran Chaudhary, Lauren Edwards, Amelia Strom, Harli Grant, Isabel E. Allen, Zachary A. Miller, Marilu L. Gorno‐Tempini, Joel H. Kramer, Bruce L. Miller, Rahul S. Desikan, Gil D. Rabinovici, Jennifer S. Yokoyama   +21 more
doaj   +1 more source

A Partially Functional Linear Modeling Framework for Integrating Genetic, Imaging, and Clinical Data [PDF]

arXiv, 2022
This paper is motivated by the joint analysis of genetic, imaging, and clinical (GIC) data collected in the Alzheimer's Disease Neuroimaging Initiative (ADNI) study. We propose a regression framework based on partially functional linear regression models to map high-dimensional GIC-related pathways for Alzheimer's Disease (AD). We develop a joint model
arxiv  

Genome‐Wide Aggregated Trans Effects Analysis Identifies Genes Encoding Immune Checkpoints as Core Genes for Rheumatoid Arthritis

Arthritis &Rheumatology, EarlyView.
Objective The sparse effector “omnigenic” hypothesis postulates that the polygenic effects of common single nucleotide polymorphisms (SNPs) on a typical complex trait are mediated by trans effects that coalesce on expression of a relatively sparse set of core genes.
Athina Spiliopoulou, Andrii Iakovliev, Darren Plant, Megan Sutcliffe, Seema Sharma, Cankut Cubuk, Myles Lewis, Costantino Pitzalis, Anne Barton, Paul M. McKeigue   +9 more
wiley   +1 more source

Exploring shared genetic bases and causal relationships of schizophrenia and bipolar disorder with 28 cardiovascular and metabolic traits [PDF]

arXiv, 2016
Cardiovascular diseases (CVD) represent a major health issue in patients with schizophrneia (SCZ) and bipolar disorder (BD), but the exact nature of cardiometabolic (CM) abnormalities involved and the underlying mechanisms remain unclear. Using polygenic risk scores (PRS) and LD score regression, we investigated the shared genetic bases of SCZ and BD ...
arxiv  

Tutorial: a guide to performing polygenic risk score analyses

bioRxiv, 2018
A polygenic score (PGS) or polygenic risk score (PRS) is an estimate of an individual’s genetic liability to a trait or disease, calculated according to their genotype profile and relevant genome-wide association study (GWAS) data.
S. Choi, Timothy Shin Heng Mak, P. O’Reilly   +2 more
semanticscholar   +1 more source

Comparative Analysis of Phenotypic and Genotypic Differences Between Individuals Affected by Regressive and Non‐Regressive Autism: A Cross‐Sectional Study

Autism Research, EarlyView.
ABSTRACT Development among autistic youth varies widely. A subgroup of children experiences regression, defined as the loss of previously acquired developmental skills. Various genetic and environmental factors have been suggested as potential contributors.
Seyed Hassan Tonekaboni, Alana Iaboni, Brett Trost, Miriam Reuter, Zsuzsa Lindenmaier, Azadeh Kushki, Elizabeth Kelley, Jessica Jones, Muhammed Ayub, Stelios Georgiades, Robert Nicolson, Elim Chan, Andrada Cretu, Jessica Brian, Evdokia Anagnostou   +14 more
wiley   +1 more source

Polygenic scores, polygenic selection and spatial autocorrelation

, 2017
Tests of polygenic selection are performed using GWAS hits and an empirical simulation with random ...
openaire   +2 more sources