Whole genome sequencing in clinical practice
FO Bagger, L Borgwardt, AS Jespersen… - BMC medical …, 2024 - Springer
Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic
diagnosis of rare and unknown diseases and for identification of actionable cancer drivers …
diagnosis of rare and unknown diseases and for identification of actionable cancer drivers …
The transition from genomics to phenomics in personalized population health
Modern health care faces several serious challenges, including an ageing population and
its inherent burden of chronic diseases, rising costs and marginal quality metrics. By …
its inherent burden of chronic diseases, rising costs and marginal quality metrics. By …
Coronary artery calcium score and polygenic risk score for the prediction of coronary heart disease events
Importance Coronary artery calcium score and polygenic risk score have each separately
been proposed as novel markers to identify risk of coronary heart disease (CHD), but no …
been proposed as novel markers to identify risk of coronary heart disease (CHD), but no …
[HTML][HTML] The importance of LDL-C lowering in atherosclerotic cardiovascular disease prevention: Lower for longer is better
Cumulative exposure to low-density lipoprotein cholesterol (LDL-C) is a key driver of
atherosclerotic cardiovascular disease (ASCVD) risk. An armamentarium of therapies to …
atherosclerotic cardiovascular disease (ASCVD) risk. An armamentarium of therapies to …
Personalized Intervention Based on Early Detection of Atherosclerosis: JACC State-of-the-Art Review
RV Nielsen, V Fuster, H Bundgaard, JJ Fuster… - Journal of the American …, 2024 - jacc.org
Cardiovascular disease (CVD) remains the leading cause of morbidity and mortality
worldwide and challenges the capacity of health care systems globally. Atherosclerosis is …
worldwide and challenges the capacity of health care systems globally. Atherosclerosis is …
Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations
A Capalbo, G de Wert, H Mertes… - Human reproduction …, 2024 - academic.oup.com
BACKGROUND The genetic composition of embryos generated by in vitro fertilization (IVF)
can be examined with preimplantation genetic testing (PGT). Until recently, PGT was limited …
can be examined with preimplantation genetic testing (PGT). Until recently, PGT was limited …
Molecular biomarkers for cardiometabolic disease: risk assessment in young individuals
UA Tahir, RE Gerszten - Circulation research, 2023 - ahajournals.org
Cardiometabolic diseases, including cardiovascular disease and diabetes, are major
causes of morbidity and mortality worldwide. Despite progress in prevention and treatment …
causes of morbidity and mortality worldwide. Despite progress in prevention and treatment …
Ancestry-specific polygenic risk scores are risk enhancers for clinical cardiovascular disease assessments
Clinical implementation of new prediction models requires evaluation of their utility in a
broad range of intended use populations. Here we develop and validate ancestry-specific …
broad range of intended use populations. Here we develop and validate ancestry-specific …
Polygenic risk score adds to a clinical risk score in the prediction of cardiovascular disease in a clinical setting
NJ Samani, E Beeston, C Greengrass… - European Heart …, 2024 - academic.oup.com
Background and Aims A cardiovascular disease polygenic risk score (CVD-PRS) can stratify
individuals into different categories of cardiovascular risk, but whether the addition of a CVD …
individuals into different categories of cardiovascular risk, but whether the addition of a CVD …
A polygenic risk score added to a QRISK® 2 cardiovascular disease risk calculator demonstrated robust clinical acceptance and clinical utility in the primary care …
A Fuat, E Adlen, M Monane, R Coll… - European journal of …, 2024 - academic.oup.com
Aims The aim of the study was to assess the real-world feasibility, acceptability, and impact
of an integrated risk tool for cardiovascular disease (CVD IRT, combining the standard …
of an integrated risk tool for cardiovascular disease (CVD IRT, combining the standard …