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 …

The impact of rare and low-frequency genetic variants in common disease

L Bomba, K Walter, N Soranzo - Genome biology, 2017 - Springer
Despite thousands of genetic loci identified to date, a large proportion of genetic variation
predisposing to complex disease and traits remains unaccounted for. Advances in …

Duration and key determinants of infectious virus shedding in hospitalized patients with coronavirus disease-2019 (COVID-19)

JJA van Kampen, DAMC van de Vijver… - Nature …, 2021 - nature.com
Key questions in COVID-19 are the duration and determinants of infectious virus shedding.
Here, we report that infectious virus shedding is detected by virus cultures in 23 of the 129 …

The power of genetic diversity in genome-wide association studies of lipids

SE Graham, SL Clarke, KHH Wu, S Kanoni, GJM Zajac… - Nature, 2021 - nature.com
Increased blood lipid levels are heritable risk factors of cardiovascular disease with varied
prevalence worldwide owing to different dietary patterns and medication use. Despite …

Identification of 64 novel genetic loci provides an expanded view on the genetic architecture of coronary artery disease

P Van Der Harst, N Verweij - Circulation research, 2018 - Am Heart Assoc
Rationale: Coronary artery disease (CAD) is a complex phenotype driven by genetic and
environmental factors. Ninety-seven genetic risk loci have been identified to date, but the …

The allelic landscape of human blood cell trait variation and links to common complex disease

WJ Astle, H Elding, T Jiang, D Allen, D Ruklisa… - Cell, 2016 - cell.com
Many common variants have been associated with hematological traits, but identification of
causal genes and pathways has proven challenging. We performed a genome-wide …

New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries

N Shrine, AL Guyatt, AM Erzurumluoglu, VE Jackson… - Nature …, 2019 - nature.com
Reduced lung function predicts mortality and is key to the diagnosis of chronic obstructive
pulmonary disease (COPD). In a genome-wide association study in 400,102 individuals of …

Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis

E Zengini, K Hatzikotoulas, I Tachmazidou… - Nature …, 2018 - nature.com
Osteoarthritis is a common complex disease imposing a large public-health burden. Here,
we performed a genome-wide association study for osteoarthritis, using data across 16.5 …

Prioritization of candidate causal genes for asthma in susceptibility loci derived from UK Biobank

K Valette, Z Li, V Bon-Baret, A Chignon… - Communications …, 2021 - nature.com
To identify candidate causal genes of asthma, we performed a genome-wide association
study (GWAS) in UK Biobank on a broad asthma definition (n= 56,167 asthma cases and …

Prospects of fine-mapping trait-associated genomic regions by using summary statistics from genome-wide association studies

C Benner, AS Havulinna, MR Järvelin… - The American Journal of …, 2017 - cell.com
During the past few years, various novel statistical methods have been developed for fine-
mapping with the use of summary statistics from genome-wide association studies (GWASs) …