Challenges and opportunities for developing more generalizable polygenic risk scores

Y Wang, K Tsuo, M Kanai, BM Neale… - Annual review of …, 2022 - annualreviews.org
Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and
diseases by aggregating information across multiple genetic variants identified from genome …

Polygenic scores in biomedical research

IJ Kullo, CM Lewis, M Inouye, AR Martin… - Nature Reviews …, 2022 - nature.com
Public health strategies aimed at disease prevention or early detection and intervention
have the potential to advance human health worldwide. However, their success depends on …

[HTML][HTML] Problems with using polygenic scores to select embryos

P Turley, MN Meyer, N Wang, D Cesarini… - … England Journal of …, 2021 - Mass Medical Soc
Companies have recently begun to sell a new service to patients considering in vitro
fertilization: embryo selection based on polygenic scores (ESPS). These scores represent …

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 …

Sociology, genetics, and the coming of age of sociogenomics

MC Mills, FC Tropf - Annual review of sociology, 2020 - annualreviews.org
Recent years have seen the birth of sociogenomics via the infusion of molecular genetic
data. We chronicle the history of genetics, focusing particularly on post-2005 genome-wide …

Whole-genome risk prediction of common diseases in human preimplantation embryos

A Kumar, K Im, M Banjevic, PC Ng, T Tunstall… - Nature medicine, 2022 - nature.com
Preimplantation genetic testing (PGT) of in-vitro-fertilized embryos has been proposed as a
method to reduce transmission of common disease; however, more comprehensive embryo …

Genetic risk factors have a substantial impact on healthy life years

S Jukarainen, T Kiiskinen, S Kuitunen, AS Havulinna… - Nature medicine, 2022 - nature.com
The impact of genetic variation on overall disease burden has not been comprehensively
evaluated. We introduce an approach to estimate the effect of genetic risk factors on …

The impact of rare protein coding genetic variation on adult cognitive function

CY Chen, R Tian, T Ge, M Lam, G Sanchez-Andrade… - Nature Genetics, 2023 - nature.com
Compelling evidence suggests that human cognitive function is strongly influenced by
genetics. Here, we conduct a large-scale exome study to examine whether rare protein …

Addressing the ethical and societal challenges posed by genome-wide association studies of behavioral and brain-related traits

MC de Hemptinne, D Posthuma - Nature neuroscience, 2023 - nature.com
Genome-wide association studies have led to the identification of robust statistical
associations of genetic variants with numerous brain-related traits, including neurological …

Utility and first clinical application of screening embryos for polygenic disease risk reduction

NR Treff, J Eccles, L Lello, E Bechor, J Hsu… - Frontiers in …, 2019 - frontiersin.org
For over 2 decades preimplantation genetic testing (PGT) has been in clinical use to reduce
the risk of miscarriage and genetic disease in patients with advanced maternal age and risk …