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DNA methylation-based predictors of health: applications and statistical considerations
DNA methylation data have become a valuable source of information for biomarker
development, because, unlike static genetic risk estimates, DNA methylation varies …
development, because, unlike static genetic risk estimates, DNA methylation varies …
A global overview of pleiotropy and genetic architecture in complex traits
After a decade of genome-wide association studies (GWASs), fundamental questions in
human genetics, such as the extent of pleiotropy across the genome and variation in genetic …
human genetics, such as the extent of pleiotropy across the genome and variation in genetic …
The polygenic and monogenic basis of blood traits and diseases
Blood cells play essential roles in human health, underpinning physiological processes
such as immunity, oxygen transport, and clotting, which when perturbed cause a significant …
such as immunity, oxygen transport, and clotting, which when perturbed cause a significant …
[HTML][HTML] The influence of evolutionary history on human health and disease
Nearly all genetic variants that influence disease risk have human-specific origins; however,
the systems they influence have ancient roots that often trace back to evolutionary events …
the systems they influence have ancient roots that often trace back to evolutionary events …
The personal and clinical utility of polygenic risk scores
Initial expectations for genome-wide association studies were high, as such studies
promised to rapidly transform personalized medicine with individualized disease risk …
promised to rapidly transform personalized medicine with individualized disease risk …
An atlas of genetic influences on osteoporosis in humans and mice
Osteoporosis is a common aging-related disease diagnosed primarily using bone mineral
density (BMD). We assessed genetic determinants of BMD as estimated by heel quantitative …
density (BMD). We assessed genetic determinants of BMD as estimated by heel quantitative …
Update on NAFLD genetics: from new variants to the clinic
Non-alcoholic fatty liver disease (NAFLD) is the leading cause of liver diseases in high-
income countries and the burden of NAFLD is increasing at an alarming rate. The risk of …
income countries and the burden of NAFLD is increasing at an alarming rate. The risk of …
Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers
Polygenic risk scores (PRSs) have shown promise in predicting susceptibility to common
diseases,–. We estimated their added value in clinical risk prediction of five common …
diseases,–. We estimated their added value in clinical risk prediction of five common …
[HTML][HTML] Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders
Studies of the genetics of psychiatric disorders have become one of the most exciting and
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …
A road map for understanding molecular and genetic determinants of osteoporosis
Osteoporosis is a highly prevalent disorder characterized by low bone mineral density and
an increased risk of fracture, termed osteoporotic fracture. Notably, bone mineral density …
an increased risk of fracture, termed osteoporotic fracture. Notably, bone mineral density …