15 years of GWAS discovery: realizing the promise
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 …
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 …
by treatment before symptom onset. In many genetic diseases, however, outcomes remain …
Dual domestications and origin of traits in grapevine evolution
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 …
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 …
traits, the effects to be estimated are confounded, and the methodologies for detecting …
[HTML][HTML] Host genetic regulation of human gut microbial structural variation
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 …
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 …
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 …
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
Background DNA methylation is a dynamic epigenetic mechanism that occurs at cytosine-
phosphate-guanine dinucleotide (CpG) sites. Epigenome-wide association studies (EWAS) …
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
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 …
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 …
detecting quantitative trait nucleotides (QTNs), QTN-by-environment interactions (QEIs), and …