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Genetic variation across and within individuals
Germline variation and somatic mutation are intricately connected and together shape
human traits and disease risks. Germline variants are present from conception, but they vary …
human traits and disease risks. Germline variants are present from conception, but they vary …
Personalized Intervention Based on Early Detection of Atherosclerosis: JACC State-of-the-Art Review
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 …
Calibrated prediction intervals for polygenic scores across diverse contexts
Polygenic scores (PGS) have emerged as the tool of choice for genomic prediction in a wide
range of fields. We show that PGS performance varies broadly across contexts and …
range of fields. We show that PGS performance varies broadly across contexts and …
Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations
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 …
Somatic and germline variants and coronary heart disease in a Chinese population
Importance The genetic basis of coronary heart disease (CHD) has expanded from a
germline to somatic genome, including clonal hematopoiesis of indeterminate potential …
germline to somatic genome, including clonal hematopoiesis of indeterminate potential …
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 …
What causes premature coronary artery disease?
Abstract Purpose of Review This review provides an overview of genetic and non-genetic
causes of premature coronary artery disease (pCAD). Recent Findings pCAD refers to …
causes of premature coronary artery disease (pCAD). Recent Findings pCAD refers to …
Adopting mechanistic molecular biology approaches in exposome research for causal understanding
Through investigating the combined impact of the environmental exposures experienced by
an individual throughout their lifetime, exposome research provides opportunities to …
an individual throughout their lifetime, exposome research provides opportunities to …
Fast and scalable ensemble learning method for versatile polygenic risk prediction
Polygenic risk scores (PRS) enhance population risk stratification and advance
personalized medicine, but existing methods face several limitations, encompassing issues …
personalized medicine, but existing methods face several limitations, encompassing issues …
Pharmacogenomic scores in psychiatry: systematic review of current evidence
NT Sharew, SR Clark, KO Schubert… - Translational Psychiatry, 2024 - nature.com
In the past two decades, significant progress has been made in the development of
polygenic scores (PGSs). One specific application of PGSs is the development and potential …
polygenic scores (PGSs). One specific application of PGSs is the development and potential …