2024 heart disease and stroke statistics: a report of US and global data from the American Heart Association

SS Martin, AW Aday, ZI Almarzooq, CAM Anderson… - Circulation, 2024 - Am Heart Assoc
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 …

Genetic heterogeneity of familial hypercholesterolemia: repercussions for molecular diagnosis

MD Di Taranto, G Fortunato - International Journal of Molecular Sciences, 2023 - mdpi.com
Genetics of Familial Hypercholesterolemia (FH) is ascribable to pathogenic variants in
genes encoding proteins leading to an impaired LDL uptake by the LDL receptor (LDLR) …

Genomic data in the All of Us research program

Biobank, Mayo Blegen Ashley L. 18 Wirkus Samantha … - Nature, 2024 - nature.com
Comprehensively mapping the genetic basis of human disease across diverse individuals is
a long-standing goal for the field of human genetics,,–. The All of Us Research Program is a …

[HTML][HTML] Gut bacterial metabolism contributes to host global purine homeostasis

K Kasahara, RL Kerby, Q Zhang, M Pradhan… - Cell host & …, 2023 - cell.com
The microbes and microbial pathways that influence host inflammatory disease progression
remain largely undefined. Here, we show that variation in atherosclerosis burden is partially …

Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals

QQ Huang, N Sallah, D Dunca, B Trivedi… - Nature …, 2022 - nature.com
Abstract Individuals with South Asian ancestry have a higher risk of heart disease than other
groups but have been largely excluded from genetic research. Using data from 22,000 …

Prevalence and risk factors of diabetic peripheral neuropathy: A population‐based cross‐sectional study in China

W Wang, Q Ji, X Ran, C Li, H Kuang… - Diabetes/Metabolism …, 2023 - Wiley Online Library
Aims To assess the prevalence of diabetic peripheral neuropathy (DPN) and its risk factors
in the type 2 diabetes mellitus (T2DM) population. Methods This cross‐sectional study …

Whole-genome sequencing of half-a-million UK Biobank participants

S Li, KJ Carss, BV Halldorsson, A Cortes… - medRxiv, 2023 - medrxiv.org
Paragraph Whole-genome sequencing (WGS) provides a comprehensive view of the
genome, enabling detection of coding and non-coding genetic variation, and surveying …

Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height

G Hawkes, RN Beaumont, Z Li, R Mandla, X Li… - Nature …, 2024 - nature.com
The role of rare non-coding variation in complex human phenotypes is still largely unknown.
To elucidate the impact of rare variants in regulatory elements, we performed a whole …

Demonstrating paths for unlocking the value of cloud genomics through cross cohort analysis

N Deflaux, MS Selvaraj, HR Condon, K Mayo… - Nature …, 2023 - nature.com
Recently, large scale genomic projects such as All of Us and the UK Biobank have
introduced a new research paradigm where data are stored centrally in cloud-based Trusted …

Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study

Y Wang, MS Selvaraj, X Li, Z Li, JA Holdcraft… - The American Journal of …, 2023 - cell.com
Long non-coding RNAs (lncRNAs) are known to perform important regulatory functions in
lipid metabolism. Large-scale whole-genome sequencing (WGS) studies and new statistical …