Results 31 to 40 of about 613,789 (384)
Integrative polygenic risk score improves the prediction accuracy of complex traits and diseases
medRxiv, 2023 Polygenic risk scores (PRS) are an emerging tool to predict the clinical phenotypes and outcomes of individuals. Validation and transferability of existing PRS across independent datasets and diverse ancestries are limited, which hinders the practical ...
B. Truong +10 more
semanticscholar +1 more source
On cross-ancestry cancer polygenic risk scores [PDF]
PLOS Genetics, 2021 Polygenic risk scores (PRS) can provide useful information for personalized risk stratification and disease risk assessment, especially when combined with non-genetic risk factors. However, their construction depends on the availability of summary statistics from genome-wide association studies (GWAS) independent from the target sample.
Lars G. Fritsche +7 more
openaire +5 more sources
Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 378-390, February 2023., 2023 Abstract Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11‐duplications detected in about 2%–3% of all patients.
Agneta Nordenskjöld +9 more
wiley +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 192, Issue 1-2, Page 3-12, January-March 2023., 2023 Abstract Ubiquitous associations have been detected between different types of childhood psychopathology and polygenic risk scores based on adult psychiatric disorders and related adult outcomes, indicating that genetic factors partly explain the association between childhood psychopathology and adult outcomes. However, these analyses in general do not
Wonuola A. Akingbuwa +12 more
wiley +1 more source
Nature Genetics, 2023 Here we present BridgePRS, a novel Bayesian polygenic risk score (PRS) method that leverages shared genetic effects across ancestries to increase PRS portability.
Clive J. Hoggart +5 more
semanticscholar +1 more source
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2023 Background Myocardial infarction (MI) is a significant clinical and public health problem worldwide. However, little research has assessed the interplay between genetic susceptibility and social environment in the development of MI.
Junhan Tang +4 more
doaj +1 more source
Polygenic risk score prediction of multiple sclerosis in individuals of South Asian ancestry
Brain Communications, 2023 Polygenic risk scores aggregate an individual’s burden of risk alleles to estimate the overall genetic risk for a specific trait or disease. Polygenic risk scores derived from genome-wide association studies of European populations perform poorly for ...
J. Breedon +5 more
semanticscholar +1 more source
Examination of runs of homozygosity in relation to height in an endogamous Namibian population
American Journal of Biological Anthropology, Volume 180, Issue 1, Page 207-215, January 2023., 2023 Abstract Objectives Height is a complex, highly heritable polygenic trait subject to both genetic composition and environmental influences. Recent studies suggest that a large proportion of height heritability is determined by the cumulative effect of many low allele frequency variants across the genome. Previous research has also identified an inverse
Natalie Swinford +6 more
wiley +1 more source
Integrating genome-wide polygenic risk scores and non-genetic risk to predict colorectal cancer diagnosis using UK Biobank data: population based cohort study [PDF]
, 2022 Objective: To evaluate the benefit of combining polygenic risk scores with the QCancer-10 (colorectal cancer) prediction model for non-genetic risk to identify people at highest risk of colorectal cancer. Design: Population based cohort study.
Briggs, Sarah EW +7 more
core +2 more sources
Development of a clinical polygenic risk score assay and reporting workflow
Nature Network Boston, 2022 Implementation of polygenic risk scores (PRS) may improve disease prevention and management but poses several challenges: the construction of clinically valid assays, interpretation for individual patients, and the development of clinical workflows and ...
Limin Hao +19 more
semanticscholar +1 more source