Principles and methods for transferring polygenic risk scores across global populations
Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait
or disease and may become a valuable tool for advancing precision medicine. However …
or disease and may become a valuable tool for advancing precision medicine. However …
2024 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association
BACKGROUND: The American Heart Association (AHA), in conjunction with the National
Institutes of Health, annually reports the most up-to-date statistics related to heart disease …
Institutes of Health, annually reports the most up-to-date statistics related to heart disease …
[HTML][HTML] Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis
J Ghouse, G Sveinbjörnsson, M Vujkovic, AS Seidelin… - Nature Genetics, 2024 - nature.com
We report a multi-ancestry genome-wide association study on liver cirrhosis and its
associated endophenotypes, alanine aminotransferase (ALT) and γ-glutamyl transferase …
associated endophenotypes, alanine aminotransferase (ALT) and γ-glutamyl transferase …
[HTML][HTML] Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
Polygenic risk scores (PRSs) have improved in predictive performance, but several
challenges remain to be addressed before PRSs can be implemented in the clinic, including …
challenges remain to be addressed before PRSs can be implemented in the clinic, including …
[HTML][HTML] Prediction and stratification of longitudinal risk for chronic obstructive pulmonary disease across smoking behaviors
Smoking is the leading risk factor for chronic obstructive pulmonary disease (COPD)
worldwide, yet many people who never smoke develop COPD. We perform a longitudinal …
worldwide, yet many people who never smoke develop COPD. We perform a longitudinal …
Earlier age at type 2 diabetes diagnosis is associated with increased genetic risk of cardiovascular disease
OBJECTIVE We investigated genetic risk of cardiovascular disease (CVD) by age at type 2
diabetes (T2D) diagnosis. RESEARCH DESIGN AND METHODS We compared incident …
diabetes (T2D) diagnosis. RESEARCH DESIGN AND METHODS We compared incident …
[HTML][HTML] Polygenic scores in the direct-to-consumer setting: challenges and opportunities for a new era in consumer genetic testing
JK Park, CY Lu - Journal of Personalized Medicine, 2023 - mdpi.com
Direct-to-consumer (DTC) genetic tests have generated considerable scholarly attention and
public intrigue. Although the current consumer genetic testing regime relies on the reporting …
public intrigue. Although the current consumer genetic testing regime relies on the reporting …
Utility of polygenic scores for differentiating diabetes diagnosis among patients with atypical phenotypes of diabetes
Context Misclassification of diabetes type occurs in people with atypical presentations of
type 1 diabetes (T1D) or type 2 diabetes (T2D). Although current clinical guidelines suggest …
type 1 diabetes (T1D) or type 2 diabetes (T2D). Although current clinical guidelines suggest …
The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary care
Polygenic risk scores (PRSs) hold promise for disease risk assessment and prevention. The
Genomic Medicine at Veterans Affairs (GenoVA) Study is addressing three main challenges …
Genomic Medicine at Veterans Affairs (GenoVA) Study is addressing three main challenges …
[HTML][HTML] Explainable multi-task learning improves the parallel estimation of polygenic risk scores for many diseases through shared genetic basis
Many complex diseases share common genetic determinants and are comorbid in a
population. We hypothesized that the co-occurrences of diseases and their overlapping …
population. We hypothesized that the co-occurrences of diseases and their overlapping …