Genetic variation across and within individuals

Z Yu, THH Coorens, MM Uddin, KG Ardlie… - Nature Reviews …, 2024‏ - nature.com
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 …

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 …

Calibrated prediction intervals for polygenic scores across diverse contexts

K Hou, Z Xu, Y Ding, R Mandla, Z Shi, K Boulier… - Nature …, 2024‏ - nature.com
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 …

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 …

Somatic and germline variants and coronary heart disease in a Chinese population

K Zhao, X Shen, H Liu, Z Lin, J Li, S Chen, F Liu… - JAMA …, 2024‏ - jamanetwork.com
Importance The genetic basis of coronary heart disease (CHD) has expanded from a
germline to somatic genome, including clonal hematopoiesis of indeterminate potential …

Ancestry-specific polygenic risk scores are risk enhancers for clinical cardiovascular disease assessments

GB Busby, S Kulm, A Bolli, J Kintzle… - Nature …, 2023‏ - nature.com
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 …

What causes premature coronary artery disease?

A Le, H Peng, D Golinsky, M Di Scipio, R Lali… - Current Atherosclerosis …, 2024‏ - Springer
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 …

Adopting mechanistic molecular biology approaches in exposome research for causal understanding

AL Foreman, B Warth, EVS Hessel… - Environmental …, 2024‏ - ACS Publications
Through investigating the combined impact of the environmental exposures experienced by
an individual throughout their lifetime, exposome research provides opportunities to …

Fast and scalable ensemble learning method for versatile polygenic risk prediction

T Chen, H Zhang, R Mazumder, X Lin - Proceedings of the National …, 2024‏ - pnas.org
Polygenic risk scores (PRS) enhance population risk stratification and advance
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 …