An introduction to polygenic scores - methodological basics and recent advances [0.03%]
多基因评分入门——方法论基础及最新进展
Hannah Klinkhammer,Andreas Mayr,Carlo Maj
Hannah Klinkhammer
Polygenic scores (PGS) allow the estimation of genetic predisposition to complex diseases and traits. Based on results from genome-wide association studies (GWAS) and data from large deeply phenotyped population biobanks, numerous PGS have ...
Axel Schmidt,Kerstin U Ludwig,Henrike O Heyne
Axel Schmidt
Mendelian diseases are caused by rare pathogenic variants with large effects. However, phenotypes are often different between individuals carrying the same variant ("variable expressivity"), or even absent in some carriers ("incomplete pene...
Polygenic risk scores in pharmacogenomics: methodological challenges, current applications, and perspectives for clinical implementation [0.03%]
药物基因组学中的多基因风险评分：方法挑战、当前应用和临床实施展望
Carina M Mathey,Martin Coenen,Ingolf Cascorbi et al.
Carina M Mathey et al.
Inter-individual variability in drug response remains a major challenge in clinical pharmacology. While clinical pharmacogenetics is largely based on actionable single-gene variants, increasing GWAS evidence indicates that many drug-respons...
Polygenic risk scores in clinical applications - opportunities and challenges [0.03%]
临床应用多基因风险评分的机会与挑战
Johannes Schumacher,Markus M Nöthen,Stefanie Heilmann-Heimbach
Johannes Schumacher
Polygenic risk scores (PRS) are increasingly transitioning from research tools into instruments with direct clinical relevance. This review addresses both opportunities and challenges of PRS across disease contexts. Key applications include...
Polygenic risk scores in neurological disorders: restless legs syndrome as a translational model [0.03%]
神经疾病中的多基因风险评分：不安腿综合征作为转化模型
Juliane Winkelmann,Barbara Schormair
Juliane Winkelmann
Polygenic risk scores (PRS) aggregate the effects of common genetic variants into a single metric of disease predisposition. Many neurological disorders exhibit a polygenic architecture, thereby providing a rationale for the application of ...