Heart disease and stroke statistics—2022 update: a report from the American Heart Association

CW Tsao, AW Aday, ZI Almarzooq, A Alonso… - Circulation, 2022 - Am Heart Assoc
Background: The American Heart Association, in conjunction with the National Institutes of
Health, annually reports the most up-to-date statistics related to heart disease, stroke, and …

[HTML][HTML] Genome-wide association studies

E Uffelmann, QQ Huang, NS Munung… - Nature Reviews …, 2021 - nature.com
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …

Heart disease and stroke statistics—2023 update: a report from the American Heart Association

CW Tsao, AW Aday, ZI Almarzooq, CAM Anderson… - Circulation, 2023 - Am Heart Assoc
Background: The American Heart Association, in conjunction with the National Institutes of
Health, annually reports the most up-to-date statistics related to heart disease, stroke, and …

[HTML][HTML] Rare variant contribution to human disease in 281,104 UK Biobank exomes

Q Wang, RS Dhindsa, K Carss, AR Harper, A Nag… - Nature, 2021 - nature.com
Genome-wide association studies have uncovered thousands of common variants
associated with human disease, but the contribution of rare variants to common disease …

[HTML][HTML] The sequences of 150,119 genomes in the UK Biobank

BV Halldorsson, HP Eggertsson, KHS Moore… - Nature, 2022 - nature.com
Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …

[PDF][PDF] Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

W Zhou, M Kanai, KHH Wu, H Rasheed, K Tsuo… - Cell Genomics, 2022 - cell.com
Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …

GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data

M Babadi, JM Fu, SK Lee, AN Smirnov, LD Gauthier… - Nature Genetics, 2023 - nature.com
Copy number variants (CNVs) are major contributors to genetic diversity and disease. While
standardized methods, such as the genome analysis toolkit (GATK), exist for detecting short …

Genetic interleukin 6 signaling deficiency attenuates cardiovascular risk in clonal hematopoiesis

AG Bick, JP Pirruccello, GK Griffin, N Gupta, S Gabriel… - Circulation, 2020 - Am Heart Assoc
Background: Clonal hematopoiesis of indeterminate potential (CHIP) refers to clonal
expansion of hematopoietic stem cells attributable to acquired leukemic mutations in genes …

Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease

H Liu, T Doke, D Guo, X Sheng, Z Ma, J Park, HMT Vy… - Nature Genetics, 2022 - nature.com
More than 800 million people suffer from kidney disease, yet the mechanism of kidney
dysfunction is poorly understood. In the present study, we define the genetic association with …

[PDF][PDF] Single-cell dissection of the obesity-exercise axis in adipose-muscle tissues implies a critical role for mesenchymal stem cells

J Yang, M Vamvini, P Nigro, LL Ho, K Galani, M Alvarez… - Cell metabolism, 2022 - cell.com
Exercise training is critical for the prevention and treatment of obesity, but its underlying
mechanisms remain incompletely understood given the challenge of profiling …