Genetically transitional disease: a new concept in genomic medicine
Q Yao, P Gorevic, B Shen, G Gibson - Trends in Genetics, 2023 - cell.com
Traditional classification of genetic diseases as monogenic and polygenic has lagged far
behind scientific progress. In this opinion article, we propose and define a new terminology …
behind scientific progress. In this opinion article, we propose and define a new terminology …
[HTML][HTML] Advances and applications of polygenic scores for coronary artery disease
Polygenic scores quantify inherited risk by integrating information from many common sites
of DNA variation into a single number. Rapid increases in the scale of genetic association …
of DNA variation into a single number. Rapid increases in the scale of genetic association …
[HTML][HTML] A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease
Identification of individuals at highest risk of coronary artery disease (CAD)—ideally before
onset—remains an important public health need. Prior studies have developed genome …
onset—remains an important public health need. Prior studies have developed genome …
[HTML][HTML] Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
Genetic variation can predispose to disease both through (i) monogenic risk variants that
disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that …
disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that …
Lp (a)(lipoprotein [a]) concentrations and incident atherosclerotic cardiovascular disease: new insights from a large national biobank
Objective: Lp (a)(lipoprotein [a]) concentrations are associated with atherosclerotic
cardiovascular disease (ASCVD), and new therapies that enable potent and specific …
cardiovascular disease (ASCVD), and new therapies that enable potent and specific …
UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits
DJ Thompson, D Wells, S Selzam, I Peneva, R Moore… - MedRxiv, 2022 - medrxiv.org
We present and assess the UK Biobank (UKB) Polygenic Risk Score (PRS) Release, a set of
PRSs for 28 diseases and 25 quantitative traits being made available on the individuals in …
PRSs for 28 diseases and 25 quantitative traits being made available on the individuals in …
Quantifying and understanding the higher risk of atherosclerotic cardiovascular disease among South Asian individuals: results from the UK Biobank prospective …
Background: Individuals of South Asian ancestry represent 23% of the global population,
corresponding to 1.8 billion people, and have substantially higher risk of atherosclerotic …
corresponding to 1.8 billion people, and have substantially higher risk of atherosclerotic …
Validation of a genome-wide polygenic score for coronary artery disease in South Asians
Background Genome-wide polygenic scores (GPS) integrate information from many
common DNA variants into a single number. Because rates of coronary artery disease …
common DNA variants into a single number. Because rates of coronary artery disease …
Multi-ancestry polygenic mechanisms of type 2 diabetes
Abstract Type 2 diabetes (T2D) is a multifactorial disease with substantial genetic risk, for
which the underlying biological mechanisms are not fully understood. In this study, we …
which the underlying biological mechanisms are not fully understood. In this study, we …
[HTML][HTML] Machine learning enables new insights into genetic contributions to liver fat accumulation
Excess liver fat, called hepatic steatosis, is a leading risk factor for end-stage liver disease
and cardiometabolic diseases but often remains undiagnosed in clinical practice because of …
and cardiometabolic diseases but often remains undiagnosed in clinical practice because of …