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 …

Benefits and limitations of genome-wide association studies

V Tam, N Patel, M Turcotte, Y Bossé, G Paré… - Nature Reviews …, 2019 - nature.com
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …

New insights into the genetic etiology of Alzheimer's disease and related dementias

C Bellenguez, F Küçükali, IE Jansen, L Kleineidam… - Nature …, 2022 - nature.com
Abstract Characterization of the genetic landscape of Alzheimer's disease (AD) and related
dementias (ADD) provides a unique opportunity for a better understanding of the associated …

Fast two-stage phasing of large-scale sequence data

BL Browning, X Tian, Y Zhou, SR Browning - The American Journal of …, 2021 - cell.com
Haplotype phasing is the estimation of haplotypes from genotype data. We present a fast,
accurate, and memory-efficient haplotype phasing method that scales to large-scale SNP …

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 …

Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction

DV Conti, BF Darst, LC Moss, EJ Saunders, X Sheng… - Nature …, 2021 - nature.com
Prostate cancer is a highly heritable disease with large disparities in incidence rates across
ancestry populations. We conducted a multiancestry meta-analysis of prostate cancer …

Polygenic basis and biomedical consequences of telomere length variation

V Codd, Q Wang, E Allara, C Musicha, S Kaptoge… - Nature …, 2021 - nature.com
Telomeres, the end fragments of chromosomes, play key roles in cellular proliferation and
senescence. Here we characterize the genetic architecture of naturally occurring variation in …

[HTML][HTML] A one-penny imputed genome from next-generation reference panels

BL Browning, Y Zhou, SR Browning - The American Journal of Human …, 2018 - cell.com
Genotype imputation is commonly performed in genome-wide association studies because it
greatly increases the number of markers that can be tested for association with a trait. In …

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

R Tadros, C Francis, X Xu, AMC Vermeer, AR Harper… - Nature …, 2021 - nature.com
The heart muscle diseases hypertrophic (HCM) and dilated (DCM) cardiomyopathies are
leading causes of sudden death and heart failure in young, otherwise healthy, individuals …

A catalog of genetic loci associated with kidney function from analyses of a million individuals

M Wuttke, Y Li, M Li, KB Sieber, MF Feitosa, M Gorski… - Nature …, 2019 - nature.com
Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic
complications. Through trans-ancestry meta-analysis of genome-wide association studies of …