Prevalence of familial hypercholesterolemia among the general population and patients with atherosclerotic cardiovascular disease: a systematic review and meta …

P Hu, KI Dharmayat, CAT Stevens, MTA Sharabiani… - Circulation, 2020 - Am Heart Assoc
Background: Contemporary studies suggest that familial hypercholesterolemia (FH) is more
frequent than previously reported and increasingly recognized as affecting individuals of all …

Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis

LE Akioyamen, J Genest, SD Shan, RL Reel… - BMJ open, 2017 - bmjopen.bmj.com
Objectives Heterozygous familial hypercholesterolaemia (FH) confers a significant risk for
premature cardiovascular disease (CVD). However, the estimated prevalence of FH varies …

[HTML][HTML] Application of artificial intelligence in community-based primary health care: systematic scoping review and critical appraisal

S Abbasgholizadeh Rahimi, F Légaré… - Journal of Medical …, 2021 - jmir.org
Background Research on the integration of artificial intelligence (AI) into community-based
primary health care (CBPHC) has highlighted several advantages and disadvantages in …

Systematic review of current natural language processing methods and applications in cardiology

MR Turchioe, A Volodarskiy, J Pathak, DN Wright… - Heart, 2022 - heart.bmj.com
Natural language processing (NLP) is a set of automated methods to organise and evaluate
the information contained in unstructured clinical notes, which are a rich source of real-world …

Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care

GF Watts, SS Gidding, P Mata, J Pang… - Nature Reviews …, 2020 - nature.com
Optimal care for familial hypercholesterolaemia (FH) requires patient-centred management,
multidisciplinary teamwork, involvement of primary care practitioners, patient networks …

[HTML][HTML] Predictive utility of polygenic risk scores for coronary heart disease in three major racial and ethnic groups

O Dikilitas, DJ Schaid, ML Kosel, RJ Carroll… - The American Journal of …, 2020 - cell.com
Because polygenic risk scores (PRSs) for coronary heart disease (CHD) are derived from
mainly European ancestry (EA) cohorts, their validity in African ancestry (AA) and Hispanic …

Cascade screening for familial hypercholesterolemia and the use of genetic testing

JW Knowles, DJ Rader, MJ Khoury - Jama, 2017 - jamanetwork.com
Familial hypercholesterolemia (FH) is a dominantly inherited genetic disorder affecting
approximately 1 in 250 individuals. It is characterized by markedly elevated low-density …

[HTML][HTML] From public health genomics to precision public health: a 20-year journey

MJ Khoury, MS Bowen, M Clyne, WD Dotson… - Genetics in …, 2018 - Elsevier
In this paper, we review the evolution of the field of public health genomics in the United
States in the past two decades. Public health genomics focuses on effective and responsible …

Population-based penetrance of deleterious clinical variants

IS Forrest, K Chaudhary, HMT Vy, BO Petrazzini… - Jama, 2022 - jamanetwork.com
Importance Population-based assessment of disease risk associated with gene variants
informs clinical decisions and risk stratification approaches. Objective To evaluate the …

Applications of artificial intelligence in clinical laboratory genomics

S Aradhya, FM Facio, H Metz, T Manders… - American Journal of …, 2023 - Wiley Online Library
The transition from analog to digital technologies in clinical laboratory genomics is ushering
in an era of “big data” in ways that will exceed human capacity to rapidly and reproducibly …