Prospects for using risk scores in polygenic medicine [PDF]
Genome-wide association studies have made strides in identifying common variation associated with disease. The modest effect sizes preclude risk prediction based on single genetic variants, but polygenic risk scores that combine thousands of variants show some predictive ability across a range of complex traits and diseases, including neuropsychiatric ...
Lewis, Cathryn M., Vassos, Evangelos
openaire +7 more sources
Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy
ABSTRACT Peripheral neuropathies (PNs) affect over 20 million individuals in the United States, manifesting as a wide range of sensory, motor, and autonomic nerve symptoms. While various conditions such as diabetes, metabolic disorders, trauma, autoimmune disease, and chemotherapy‐induced neurotoxicity have been linked to PN, approximately one‐third of
Julie Choi+7 more
wiley +1 more source
Abstract Readers of JCPP Advances known that the dominant classification system (Diagnostic and Statistical Manual of Mental Disorders) in psychiatry and psychology conceptualizes psychopathology as discrete diagnostic categories. This measurement model builds on a strong assumption of a clear discontinuity between individuals who meet criteria for a ...
Henrik Larsson, Erik Pettersson
wiley +1 more source
Incorporating External Risk Information with the Cox Model under Population Heterogeneity: Applications to Trans-Ancestry Polygenic Hazard Scores [PDF]
Polygenic hazard score (PHS) models designed for European ancestry (EUR) individuals provide ample information regarding survival risk discrimination. Incorporating such information can improve the performance of risk discrimination in an internal small-sized non-EUR cohort.
arxiv
Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia
Autosomal‐dominant familial hypercholesterolemia (FH) is characterized by increased plasma concentrations of low‐density lipoprotein cholesterol (LDL‐C) and a substantial risk to develop cardiovascular disease.
L. Rieck+10 more
semanticscholar +1 more source
Polygenic risk score association with multiple sclerosis susceptibility and phenotype in Europeans.
Polygenic inheritance plays a pivotal role in driving multiple sclerosis susceptibility, an inflammatory demyelinating disease of the central nervous system.
Hengameh Shams+16 more
semanticscholar +1 more source
Delivery of A Chemically Modified Noncoding RNA Domain Improves Dystrophic Myotube Function
CYTOR is a pro‐myogenic ncRNA in skeletal muscle. Here, chemical probing of CYTOR, coupled with functional cellular assays identifies exon 2 as an independent myogenic RNA domain. Chemical engineering of CYTOR exon 2 RNA improves pharmacologic properties, including RNA stability and cell‐autonomous immunogenicity.
Zeinabou Niasse‐Sy+6 more
wiley +1 more source
Clinical utility of polygenic scores for cardiometabolic disease in Arabs
Arabs account for 5% of the world population and have a high burden of cardiometabolic disease, yet clinical utility of polygenic risk prediction in Arabs remains understudied. Among 5399 Arab patients, we optimize polygenic scores for 10 cardiometabolic
Injeong Shim+12 more
doaj +1 more source
A Bayesian method for estimating gene-level polygenicity under the framework of transcriptome-wide association study [PDF]
Polygnicity refers to the phenomenon that multiple genetic variants have a non-zero effect on a complex trait. It is defined as the proportion of genetic variants that have a nonzero effect on the trait. Evaluation of polygenicity can provide valuable insights into the genetic architecture of the trait.
arxiv
Applying polygenic risk scores to postpartum depression [PDF]
The etiology of major depressive disorder (MDD) is likely to be heterogeneous, but postpartum depression (PPD) is hypothesized to represent a more homogenous subset of MDD. We use genome-wide SNP data to explore this hypothesis.
Dorret I. Boomsma+26 more
openaire +6 more sources