Genome sequence of the Brown Norway rat yields insights into mammalian evolution
The laboratory rat (Rattus norvegicus) is an indispensable tool in experimental medicine and
drug development, having made inestimable contributions to human health. We report here …
drug development, having made inestimable contributions to human health. We report here …
[PDF][PDF] Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data
B Li, SM Leal - The American Journal of Human Genetics, 2008 - cell.com
Although whole-genome association studies using tagSNPs are a powerful approach for
detecting common variants, they are underpowered for detecting associations with rare variants…
detecting common variants, they are underpowered for detecting associations with rare variants…
[PDF][PDF] Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations
Most loci identified by GWASs have been found in populations of European ancestry (EUR).
In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including …
In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including …
RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data
Motivation: Next-generation sequencing technologies have enabled the large-scale assessment
of the impact of rare and low-frequency genetic variants for complex human diseases. …
of the impact of rare and low-frequency genetic variants for complex human diseases. …
[HTML][HTML] Transcriptome analysis of psoriasis in a large case–control sample: RNA-seq provides insights into disease mechanisms
To increase our understanding of psoriasis, we used high-throughput complementary DNA
sequencing (RNA-seq) to assay the transcriptomes of lesional psoriatic and normal skin. We …
sequencing (RNA-seq) to assay the transcriptomes of lesional psoriatic and normal skin. We …
[HTML][HTML] Drug repurposing for Alzheimer's disease from 2012–2022—A 10-year literature review
Background: Alzheimer’s disease (AD) is a debilitating neurodegenerative condition with
few treatment options available. Drug repurposing studies have sought to identify existing …
few treatment options available. Drug repurposing studies have sought to identify existing …
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk
Known genetic loci explain only a small proportion of the familial relative risk of colorectal
cancer (CRC). We conducted a genome-wide association study of CRC in East Asians with …
cancer (CRC). We conducted a genome-wide association study of CRC in East Asians with …
[PDF][PDF] Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol
Elevated low-density lipoprotein cholesterol (LDL-C) is a treatable, heritable risk factor for
cardiovascular disease. Genome-wide association studies (GWASs) have identified 157 …
cardiovascular disease. Genome-wide association studies (GWASs) have identified 157 …
[HTML][HTML] Analysis of long non-coding RNAs highlights tissue-specific expression patterns and epigenetic profiles in normal and psoriatic skin
Background Although analysis pipelines have been developed to use RNA-seq to identify
long non-coding RNAs (lncRNAs), inference of their biological and pathological relevance …
long non-coding RNAs (lncRNAs), inference of their biological and pathological relevance …
A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer
The breast cancer risk variants identified in genome-wide association studies explain only a
small fraction of the familial relative risk, and the genes responsible for these associations …
small fraction of the familial relative risk, and the genes responsible for these associations …