Results 101 to 110 of about 65,839 (347)
Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank [PDF]
, 2021 Louise Wang +14 more
openalex +1 more source
Improving the cost effectiveness equation of cascade testing for Familial Hypercholesterolaemia (FH) [PDF]
, 2015 Purpose of Review : Many International recommendations for the management of Familial Hypercholesterolaemia (FH) propose the use of Cascade Testing (CT) using the family mutation to unambiguously identify affected relatives.
Futema, M +3 more
core
Common polygenic risk for autism spectrum disorder (ASD) is associated with cognitive ability in the general population [PDF]
, 2015 Acknowledgements Generation Scotland has received core funding from the Chief Scientist Office of the Scottish Government Health Directorates CZD/16/6 and the Scottish Funding Council HR03006.
Clarke, T. K. +22 more
core +6 more sources
Considerations for drug trials in hypertrophic cardiomyopathy
ESC Heart Failure, Volume 12, Issue 2, Page 1095-1112, April 2025.Abstract Hypertrophic cardiomyopathy (HCM) is a heterogeneous condition with potentially serious manifestations. Management has traditionally comprised therapies to palliate symptoms and implantable cardioverter‐defibrillators to prevent sudden cardiac death. The need for disease‐modifying therapies has been recognized for decades.
John P. Farrant +17 more
wiley +1 more source
Breast Cancer Research, 2020 Polygenic factors are estimated to account for an additional 18% of the familial relative risk of breast cancer, with those at the highest level of polygenic risk distribution having a least a twofold increased risk of the disease.
Tatiane Yanes +3 more
doaj +1 more source
Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use. [PDF]
, 2019 Tobacco and alcohol use are leading causes of mortality that influence risk for many complex diseases and disorders1. They are heritable2,3 and etiologically related4,5 behaviors that have been resistant to gene discovery efforts6-11.
23andMe Research Team +99 more
core
Genome editing, Goldilocks and polygenic risk scores [PDF]
Journal of Medical Ethics, 2019 Heritable genome editing (HGE) is officially here. ‘Lulu’ and ‘Nana’, born in China, are the first children whose genomes have been intentionally modified. A third gene edited baby may have already been born. Scientists in Russia are planning similar applications.1 We recently argued that HGE should be judged by the same ethical standards that we ...
Gyngell, C +2 more
openaire +3 more sources
Environmental and Molecular Mutagenesis, EarlyView.Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons +17 more
wiley +1 more source
The Population Genetic Signature of Polygenic Local Adaptation
, 2014 Adaptation in response to selection on polygenic phenotypes may occur via subtle allele frequencies shifts at many loci. Current population genomic techniques are not well posed to identify such signals.
Berg, Jeremy J., Coop, Graham
core +3 more sources
New approaches in detection and treatment of familial hypercholesterolemia [PDF]
, 2015 Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder that clinically leads to increased low density lipoprotein-cholesterol (LDL-C) levels. As a consequence, FH patients are at high risk for cardiovascular disease (CVD). Mutations
Hartgers, ML, Hovingh, GK, Ray, KK
core +3 more sources