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 …
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 …
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
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 …
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 …
autoimmunity, diabetes and cardiovascular disease. However, outside nuclear receptors …
From basic science to clinical application of polygenic risk scores: a primer
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 …
individuals to diseases. All individuals have DNA risk variants for all common diseases, but …
Challenges and opportunities for developing more generalizable polygenic risk scores
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 …
diseases by aggregating information across multiple genetic variants identified from genome …
The trans-ancestral genomic architecture of glycemic traits
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 …
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 …
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 …
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)
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 …
technology has enabled the generation of new insights into the phenotype known as …