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 …

Emerging targets in type 2 diabetes and diabetic complications

S Demir, PP Nawroth, S Herzig… - Advanced …, 2021 - Wiley Online Library
Type 2 diabetes is a metabolic, chronic disorder characterized by insulin resistance and
elevated blood glucose levels. Although a large drug portfolio exists to keep the blood …

Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification

M Dapas, A Dunaif - Endocrine reviews, 2022 - academic.oup.com
Polycystic ovary syndrome (PCOS) is among the most common disorders in women of
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …

Advances in targeting 'undruggable'transcription factors with small molecules

MJ Henley, AN Koehler - Nature Reviews Drug Discovery, 2021 - nature.com
Transcription factors (TFs) represent key biological players in diseases including cancer,
autoimmunity, diabetes and cardiovascular disease. However, outside nuclear receptors …

From basic science to clinical application of polygenic risk scores: a primer

NR Wray, T Lin, J Austin, JJ McGrath, IB Hickie… - JAMA …, 2021 - jamanetwork.com
Importance Polygenic risk scores (PRS) are predictors of the genetic susceptibilities of
individuals to diseases. All individuals have DNA risk variants for all common diseases, but …

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 …

The trans-ancestral genomic architecture of glycemic traits

J Chen, CN Spracklen, G Marenne, A Varshney… - Nature …, 2021 - nature.com
Glycemic traits are used to diagnose and monitor type 2 diabetes and cardiometabolic
health. To date, most genetic studies of glycemic traits have focused on individuals of …

From variant to function in human disease genetics

T Lappalainen, DG MacArthur - Science, 2021 - science.org
Over the next decade, the primary challenge in human genetics will be to understand the
biological mechanisms by which genetic variants influence phenotypes, including disease …

Heterogeneity in phenotype, disease progression and drug response in type 2 diabetes

ATN Nair, A Wesolowska-Andersen, C Brorsson… - Nature Medicine, 2022 - nature.com
Abstract Type 2 diabetes (T2D) is a complex chronic disease characterized by considerable
phenotypic heterogeneity. In this study, we applied a reverse graph embedding method to …

Precision medicine in diabetes: a consensus report from the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD)

WK Chung, K Erion, JC Florez, AT Hattersley… - Diabetes …, 2020 - Am Diabetes Assoc
The convergence of advances in medical science, human biology, data science, and
technology has enabled the generation of new insights into the phenotype known as …