Results 31 to 40 of about 186,925 (248)

Cerebellum Transcriptome of Mice Bred for High Voluntary Activity Offers Insights into Locomotor Control and Reward-Dependent Behaviors. [PDF]

open access: yes, 2016
The role of the cerebellum in motivation and addictive behaviors is less understood than that in control and coordination of movements. High running can be a self-rewarding behavior exhibiting addictive properties.
Caetano-Anollés, Kelsey   +6 more
core   +2 more sources

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1 [PDF]

open access: yes, 2018
Biliary atresia (BA) is a rare pediatric cholangiopathy characterized by fibrosclerosing obliteration of the extrahepatic bile ducts, leading to cholestasis, fibrosis, cirrhosis, and eventual liver failure.
Bailey-Wilson, Joan E   +12 more
core   +2 more sources

A Path to Implement Precision Child Health Cardiovascular Medicine. [PDF]

open access: yes, 2017
Congenital heart defects (CHDs) affect approximately 1% of live births and are a major source of childhood morbidity and mortality even in countries with advanced healthcare systems. Along with phenotypic heterogeneity, the underlying etiology of CHDs is
Brian Reemtsen   +8 more
core   +2 more sources

From Gene Expression to Transcriptome-wide Association Study: Development and Comparison of Methodology

open access: yesXiehe Yixue Zazhi
Over the past two decades, genome-wide association study(GWAS) has identified numerous genetic variants and loci associated with heritable diseases. With the gradual maturation and saturation of GWAS methodologies, transcriptome-wide association study ...
FANG Kun   +8 more
doaj   +1 more source

Integrating Genome-Wide Association Studies and Gene Expression Profiles With Chemical-Genes Interaction Networks to Identify Chemicals Associated With Colorectal Cancer

open access: yesFrontiers in Genetics, 2020
Colorectal cancer (CRC) is the third most common cancer and has the second highest mortality rate in global cancer. Exploring the associations between chemicals and CRC has great significance in prophylaxis and therapy of tumor diseases.
Xinyue Tan   +8 more
doaj   +1 more source

Principles for the post-GWAS functional characterisation of risk loci [PDF]

open access: yes, 2010
Several challenges lie ahead in assigning functionality to susceptibility SNPs. For example, most effect sizes are small relative to effects seen in monogenic diseases, with per allele odds ratios usually ranging from 1.15 to 1.3.
Alvaro N. A. Monteiro   +15 more
core   +3 more sources

A transcriptome-wide association study of Alzheimer’s disease using prediction models of relevant tissues identifies novel candidate susceptibility genes

open access: yesGenome Medicine, 2021
Background Genome-wide association studies (GWAS) have identified over 56 susceptibility loci associated with Alzheimer’s disease (AD), but the genes responsible for these associations remain largely unknown.
Yanfa Sun   +8 more
doaj   +1 more source

Identification and validation of novel risk genes for intervertebral disc disorder by integrating large-scale multi-omics analyses and experimental studies

open access: yesFrontiers in Medicine
IntroductionAlthough genome-wide association studies (GWAS) have identified multiple genetic loci linked to intervertebral disc disorder (IDD), their functional characterization remains largely unelucidated.
Zhe Zhang   +9 more
doaj   +1 more source

RNA-Seq optimization with eQTL gold standards. [PDF]

open access: yes, 2013
BackgroundRNA-Sequencing (RNA-Seq) experiments have been optimized for library preparation, mapping, and gene expression estimation. These methods, however, have revealed weaknesses in the next stages of analysis of differential expression, with results ...
Arking, Dan E   +5 more
core   +2 more sources

Identification of asthma-related genes using asthmatic blood eQTLs of Korean patients

open access: yesBMC Medical Genomics, 2023
Background More than 200 asthma-associated genetic variants have been identified in genome-wide association studies (GWASs). Expression quantitative trait loci (eQTL) data resources can help identify causal genes of the GWAS signals, but it can be ...
Dong Jun Kim   +12 more
doaj   +1 more source

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