[HTML][HTML] Genome-wide association studies

E Uffelmann, QQ Huang, NS Munung… - Nature Reviews …, 2021 - nature.com
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …

[HTML][HTML] Polygenic risk scores: from research tools to clinical instruments

CM Lewis, E Vassos - Genome medicine, 2020 - Springer
Genome-wide association studies have shown unequivocally that common complex
disorders have a polygenic genetic architecture and have enabled researchers to identify …

Towards clinical utility of polygenic risk scores

SA Lambert, G Abraham, M Inouye - Human molecular genetics, 2019 - academic.oup.com
Prediction of disease risk is an essential part of preventative medicine, often guiding clinical
management. Risk prediction typically includes risk factors such as age, sex, family history of …

New and emerging approaches to treat psychiatric disorders

KW Scangos, MW State, AH Miller, JT Baker… - Nature medicine, 2023 - nature.com
Psychiatric disorders are highly prevalent, often devastating diseases that negatively impact
the lives of millions of people worldwide. Although their etiological and diagnostic …

[HTML][HTML] Biomarkers in psychiatry: concept, definition, types and relevance to the clinical reality

MS García-Gutiérrez, F Navarrete, F Sala… - Frontiers in …, 2020 - frontiersin.org
During the last years, an extraordinary effort has been made to identify biomarkers as
potential tools for improving prevention, diagnosis, drug response and drug development in …

The genetics of epilepsy

P Perucca, M Bahlo, SF Berkovic - Annual review of genomics …, 2020 - annualreviews.org
Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …

[HTML][HTML] Polygenic scores: prediction versus explanation

R Plomin, S Von Stumm - Molecular psychiatry, 2022 - nature.com
During the past decade, polygenic scores have become a fast-growing area of research in
the behavioural sciences. The ability to directly assess people's genetic propensities has …

[HTML][HTML] Polygenic risk scores in the clinic: new perspectives needed on familiar ethical issues

ACF Lewis, RC Green - Genome Medicine, 2021 - Springer
Clinical use of polygenic risk scores (PRS) will look very different to the more familiar
monogenic testing. Here we argue that despite these differences, most of the ethical, legal …

[PDF][PDF] Genome-wide modeling of polygenic risk score in colorectal cancer risk

M Thomas, LC Sakoda, M Hoffmeister… - The American journal of …, 2020 - cell.com
Accurate colorectal cancer (CRC) risk prediction models are critical for identifying
individuals at low and high risk of developing CRC, as they can then be offered targeted …

Common genetic variation influencing human white matter microstructure

B Zhao, T Li, Y Yang, X Wang, T Luo, Y Shan, Z Zhu… - Science, 2021 - science.org
INTRODUCTION White matter in the human brain serves a critical role in organizing
distributed neural networks. Diffusion magnetic resonance imaging (dMRI) has enabled the …