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 …

Regulation of glucose and lipid metabolism in health and disease

L Chen, XW Chen, X Huang, BL Song, Y Wang… - Science China life …, 2019 - Springer
Glucose and fatty acids are the major sources of energy for human body. Cholesterol, the
most abundant sterol in mammals, is a key component of cell membranes although it does …

Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences

R Karlsson Linnér, P Biroli, E Kong, SFW Meddens… - Nature …, 2019 - nature.com
Humans vary substantially in their willingness to take risks. In a combined sample of over 1
million individuals, we conducted genome-wide association studies (GWAS) of general risk …

Genetics of coronary artery disease

R McPherson, A Tybjaerg-Hansen - Circulation research, 2016 - Am Heart Assoc
Genetic factors contribute importantly to the risk of coronary artery disease (CAD), and in the
past decade, there has been major progress in this area. The tools applied include genome …

De novo mutations in human genetic disease

JA Veltman, HG Brunner - Nature Reviews Genetics, 2012 - nature.com
New mutations have long been known to cause genetic disease, but their true contribution to
the disease burden can only now be determined using family-based whole-genome or …

[HTML][HTML] Systematic functional dissection of common genetic variation affecting red blood cell traits

JC Ulirsch, SK Nandakumar, L Wang, FC Giani… - Cell, 2016 - cell.com
Genome-wide association studies (GWAS) have successfully identified thousands of
associations between common genetic variants and human disease phenotypes, but the …

Molecular basis of β thalassemia and potential therapeutic targets

SL Thein - Blood Cells, Molecules, and Diseases, 2018 - Elsevier
The remarkable phenotypic diversity of β thalassemia that range from severe anemia and
transfusion-dependency, to a clinically asymptomatic state exemplifies how a spectrum of …

A genome-wide association study of seed protein and oil content in soybean

EY Hwang, Q Song, G Jia, JE Specht, DL Hyten… - BMC genomics, 2014 - Springer
Background Association analysis is an alternative to conventional family-based methods to
detect the location of gene (s) or quantitative trait loci (QTL) and provides relatively high …

Genetics of human cardiovascular disease

S Kathiresan, D Srivastava - Cell, 2012 - cell.com
Cardiovascular disease encompasses a range of conditions extending from myocardial
infarction to congenital heart disease, most of which are heritable. Enormous effort has been …

[HTML][HTML] Molecular genetics of β-thalassemia: A narrative review

TH Jaing, TY Chang, SH Chen, CW Lin, YC Wen… - Medicine, 2021 - journals.lww.com
Abstract β-thalassemia is a hereditary hematological disease caused by over 350 mutations
in the β-globin gene (HBB). Identifying the genetic variants affecting fetal hemoglobin (HbF) …