Genome-wide association studies of cardiovascular disease
R Walsh, SJ Jurgens, J Erdmann… - Physiological …, 2023 - journals.physiology.org
Genome-wide association studies (GWAS) aim to identify common genetic variants that are
associated with traits and diseases. Since 2005, more than 5,000 GWAS have been …
associated with traits and diseases. Since 2005, more than 5,000 GWAS have been …
[PDF][PDF] Single-cell atlas reveals correlates of high cognitive function, dementia, and resilience to Alzheimer's disease pathology
Alzheimer's disease (AD) is the most common cause of dementia worldwide, but the
molecular and cellular mechanisms underlying cognitive impairment remain poorly …
molecular and cellular mechanisms underlying cognitive impairment remain poorly …
FAVOR: functional annotation of variants online resource and annotator for variation across the human genome
Large biobank-scale whole genome sequencing (WGS) studies are rapidly identifying a
multitude of coding and non-coding variants. They provide an unprecedented resource for …
multitude of coding and non-coding variants. They provide an unprecedented resource for …
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 …
[HTML][HTML] Whole genome sequence analysis of blood lipid levels in> 66,000 individuals
Blood lipids are heritable modifiable causal factors for coronary artery disease. Despite well-
described monogenic and polygenic bases of dyslipidemia, limitations remain in discovery …
described monogenic and polygenic bases of dyslipidemia, limitations remain in discovery …
Genetic variation across and within individuals
Germline variation and somatic mutation are intricately connected and together shape
human traits and disease risks. Germline variants are present from conception, but they vary …
human traits and disease risks. Germline variants are present from conception, but they vary …
[HTML][HTML] Whole-genome sequencing analysis of human metabolome in multi-ethnic populations
EV Feofanova, MR Brown, T Alkis, AM Manuel… - Nature …, 2023 - nature.com
Circulating metabolite levels may reflect the state of the human organism in health and
disease, however, the genetic architecture of metabolites is not fully understood. We have …
disease, however, the genetic architecture of metabolites is not fully understood. We have …
[HTML][HTML] Multitrait genome-wide analyses identify new susceptibility loci and candidate drugs to primary sclerosing cholangitis
Y Han, J Byun, C Zhu, R Sun, JY Roh… - Nature …, 2023 - nature.com
Primary sclerosing cholangitis (PSC) is a rare autoimmune bile duct disease that is strongly
associated with immune-mediated disorders. In this study, we implemented multitrait joint …
associated with immune-mediated disorders. In this study, we implemented multitrait joint …
Adjusting for common variant polygenic scores improves yield in rare variant association analyses
With the emergence of large-scale sequencing data, methods for improving power in rare
variant association tests are needed. Here we show that adjusting for common variant …
variant association tests are needed. Here we show that adjusting for common variant …
[HTML][HTML] A power-based sliding window approach to evaluate the clinical impact of rare genetic variants in the nucleotide sequence or the spatial position of the folded …
Systematic determination of novel variant pathogenicity remains a major challenge, even
when there is an established association between a gene and phenotype. Here we present …
when there is an established association between a gene and phenotype. Here we present …