[PDF][PDF] 15 years of GWAS discovery: realizing the promise

A Abdellaoui, L Yengo, KJH Verweij… - The American Journal of …, 2023 - cell.com
It has been 15 years since the advent of the genome-wide association study (GWAS) era.
Here, we review how this experimental design has realized its promise by facilitating an …

Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps

Nature Medicine, 2021 - nature.com
Polygenic risk scores (PRSs) aggregate the many small effects of alleles across the human
genome to estimate the risk of a disease or disease-related trait for an individual. The …

[HTML][HTML] Mendelian imputation of parental genotypes improves estimates of direct genetic effects

AI Young, SM Nehzati, S Benonisdottir, A Okbay… - Nature Genetics, 2022 - nature.com
Abstract Effects estimated by genome-wide association studies (GWASs) include effects of
alleles in an individual on that individual (direct genetic effects), indirect genetic effects (for …

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 …

Discovery and implications of polygenicity of common diseases

PM Visscher, L Yengo, NJ Cox, NR Wray - Science, 2021 - science.org
The sequencing of the human genome has allowed the study of the genetic architecture of
common diseases: the number of genomic variants that contribute to risk of disease and …

New insights from the last decade of research in psychiatric genetics: discoveries, challenges and clinical implications

OA Andreassen, GFL Hindley, O Frei… - World …, 2023 - Wiley Online Library
Psychiatric genetics has made substantial progress in the last decade, providing new
insights into the genetic etiology of psychiatric disorders, and paving the way for precision …

[HTML][HTML] Genetics of type 2 diabetes: implications from large-scale studies

N DeForest, AR Majithia - Current diabetes reports, 2022 - Springer
Abstract Purpose of Review Type 2 diabetes (T2D) is a multifactorial, heritable syndrome
characterized by dysregulated glucose homeostasis that results from impaired insulin …

[HTML][HTML] 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 …

Genetics of multiple sclerosis: lessons from polygenicity

A Goris, M Vandebergh, JL McCauley… - The Lancet …, 2022 - thelancet.com
Large-scale mapping studies have identified 236 independent genetic variants associated
with an increased risk of multiple sclerosis. However, none of these variants are found …