DNA methylation-based predictors of health: applications and statistical considerations

PD Yousefi, M Suderman, R Langdon… - Nature Reviews …, 2022 - nature.com
DNA methylation data have become a valuable source of information for biomarker
development, because, unlike static genetic risk estimates, DNA methylation varies …

A global overview of pleiotropy and genetic architecture in complex traits

K Watanabe, S Stringer, O Frei, M Umićević Mirkov… - Nature …, 2019 - nature.com
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 …

The polygenic and monogenic basis of blood traits and diseases

D Vuckovic, EL Bao, P Akbari, CA Lareau, A Mousas… - Cell, 2020 - cell.com
Blood cells play essential roles in human health, underpinning physiological processes
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

ML Benton, A Abraham, AL LaBella, P Abbot… - Nature Reviews …, 2021 - nature.com
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 personal and clinical utility of polygenic risk scores

A Torkamani, NE Wineinger, EJ Topol - Nature Reviews Genetics, 2018 - nature.com
Initial expectations for genome-wide association studies were high, as such studies
promised to rapidly transform personalized medicine with individualized disease risk …

An atlas of genetic influences on osteoporosis in humans and mice

JA Morris, JP Kemp, SE Youlten, L Laurent, JG Logan… - Nature …, 2019 - nature.com
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 …

Update on NAFLD genetics: from new variants to the clinic

E Trépo, L Valenti - Journal of hepatology, 2020 - Elsevier
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 …

Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers

N Mars, JT Koskela, P Ripatti, TTJ Kiiskinen… - Nature medicine, 2020 - nature.com
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 …

[HTML][HTML] Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders

PF Sullivan, DH Geschwind - Cell, 2019 - cell.com
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 …

A road map for understanding molecular and genetic determinants of osteoporosis

TL Yang, H Shen, A Liu, SS Dong, L Zhang… - Nature Reviews …, 2020 - nature.com
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 …