15 years of GWAS discovery: realizing the promise

A Abdellaoui, L Yengo, KJH Verweij… - The American Journal of …, 2023 - cell.com
It has been 15 years since the advent of the genome-wide association study (GWAS) era.
Here, we review how this experimental design has realized its promise by facilitating an …

[HTML][HTML] A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

SF Kingsmore, LD Smith, CM Kunard… - The American Journal of …, 2022 - cell.com
Newborn screening (NBS) dramatically improves outcomes in severe childhood disorders
by treatment before symptom onset. In many genetic diseases, however, outcomes remain …

Dual domestications and origin of traits in grapevine evolution

Y Dong, S Duan, Q **a, Z Liang, X Dong, K Margaryan… - Science, 2023 - science.org
We elucidate grapevine evolution and domestication histories with 3525 cultivated and wild
accessions worldwide. In the Pleistocene, harsh climate drove the separation of wild grape …

A compressed variance component mixed model for detecting QTNs and QTN-by-environment and QTN-by-QTN interactions in genome-wide association studies

M Li, YW Zhang, ZC Zhang, Y **ang, MH Liu, YH Zhou… - Molecular Plant, 2022 - cell.com
Although genome-wide association studies are widely used to mine genes for quantitative
traits, the effects to be estimated are confounded, and the methodologies for detecting …

[HTML][HTML] Host genetic regulation of human gut microbial structural variation

DV Zhernakova, D Wang, L Liu, S Andreu-Sánchez… - Nature, 2024 - nature.com
Although the impact of host genetics on gut microbial diversity and the abundance of specific
taxa is well established,,,,–, little is known about how host genetics regulates the genetic …

Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine

P Schlosser, N Scherer, F Grundner-Culemann… - Nature …, 2023 - nature.com
The kidneys operate at the interface of plasma and urine by clearing molecular waste
products while retaining valuable solutes. Genetic studies of paired plasma and urine …

Locus for severity implicates CNS resilience in progression of multiple sclerosis

MultipleMS Consortium Harroud Adil 1 78 78 Jónsdóttir … - Nature, 2023 - nature.com
Multiple sclerosis (MS) is an autoimmune disease of the central nervous system (CNS) that
results in significant neurodegeneration in the majority of those affected and is a common …

Blood-based epigenome-wide analyses of 19 common disease states: A longitudinal, population-based linked cohort study of 18,413 Scottish individuals

RF Hillary, DL McCartney, HM Smith, E Bernabeu… - PLoS …, 2023 - journals.plos.org
Background DNA methylation is a dynamic epigenetic mechanism that occurs at cytosine-
phosphate-guanine dinucleotide (CpG) sites. Epigenome-wide association studies (EWAS) …

Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies

X Li, C Quick, H Zhou, SM Gaynor, Y Liu, H Chen… - Nature …, 2023 - nature.com
Meta-analysis of whole genome sequencing/whole exome sequencing (WGS/WES) studies
provides an attractive solution to the problem of collecting large sample sizes for discovering …

IIIVmrMLM: The R and C++ tools associated with 3VmrMLM, a comprehensive GWAS method for dissecting quantitative traits

M Li, YW Zhang, Y **ang, MH Liu, YM Zhang - Molecular Plant, 2022 - cell.com
In most existing methods and softwares of genome-wide association studies (GWAS) for
detecting quantitative trait nucleotides (QTNs), QTN-by-environment interactions (QEIs), and …