[HTML][HTML] Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

JD Szustakowski, S Balasubramanian, E Kvikstad… - Nature …, 2021 - nature.com
Abstract The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a private–public
partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that …

Genetics of coronary artery disease: discovery, biology and clinical translation

AV Khera, S Kathiresan - Nature Reviews Genetics, 2017 - nature.com
Coronary artery disease is the leading global cause of mortality. Long recognized to be
heritable, recent advances have started to unravel the genetic architecture of the disease …

Genome-wide association meta-analysis identifies 17 loci associated with nonalcoholic fatty liver disease

Y Chen, X Du, A Kuppa, MF Feitosa, LF Bielak… - Nature …, 2023 - nature.com
Nonalcoholic fatty liver disease (NAFLD) is common and partially heritable and has no
effective treatments. We carried out a genome-wide association study (GWAS) meta …

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

X Li, Z Li, H Zhou, SM Gaynor, Y Liu, H Chen, R Sun… - Nature …, 2020 - nature.com
Large-scale whole-genome sequencing studies have enabled the analysis of rare variants
(RVs) associated with complex phenotypes. Commonly used RV association tests have …

Genetic architecture: the shape of the genetic contribution to human traits and disease

NJ Timpson, CMT Greenwood, N Soranzo… - Nature Reviews …, 2018 - nature.com
Genetic architecture describes the characteristics of genetic variation that are responsible for
heritable phenotypic variability. It depends on the number of genetic variants affecting a trait …

[HTML][HTML] The role of lipids and lipoproteins in atherosclerosis

MRF Linton, PG Yancey, SS Davies, WG Jerome… - Endotext …, 2019 - ncbi.nlm.nih.gov
Atherosclerosis is the underlying cause of heart attack and stroke. Early observations that
cholesterol is a key component of arterial plaques gave rise to the cholesterol hypothesis for …

Global functions of O‐glycosylation: promises and challenges in O‐glycobiology

HH Wandall, MAI Nielsen, S King‐Smith… - The FEBS …, 2021 - Wiley Online Library
Mucin type O‐glycosylation is one of the most diverse types of glycosylation, playing
essential roles in tissue development and homeostasis. In complex organisms, O‐GalNAc …

[HTML][HTML] Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants

KG Aragam, T Jiang, A Goel, S Kanoni, BN Wolford… - Nature …, 2022 - nature.com
The discovery of genetic loci associated with complex diseases has outpaced the
elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide …

[HTML][HTML] β3-Adrenergic receptor downregulation leads to adipocyte catecholamine resistance in obesity

JM Valentine, M Ahmadian, O Keinan… - The Journal of …, 2022 - Am Soc Clin Investig
The dysregulation of energy homeostasis in obesity involves multihormone resistance.
Although leptin and insulin resistance have been well characterized, catecholamine …

[HTML][HTML] National Lipid Association recommendations for patient-centered management of dyslipidemia: part 2

TA Jacobson, KC Maki, CE Orringer, PH Jones… - Journal of clinical …, 2015 - Elsevier
Abstract An Expert Panel convened by the National Lipid Association previously developed
a consensus set of recommendations for the patient-centered management of dyslipidemia …