[HTML][HTML] A survey of best practices for RNA-seq data analysis

A Conesa, P Madrigal, S Tarazona, D Gomez-Cabrero… - Genome biology, 2016 - Springer
Abstract RNA-sequencing (RNA-seq) has a wide variety of applications, but no single
analysis pipeline can be used in all cases. We review all of the major steps in RNA-seq data …

Selecting instruments for Mendelian randomization in the wake of genome-wide association studies

DI Swerdlow, KB Kuchenbaecker… - International journal …, 2016 - academic.oup.com
Mendelian randomization (MR) studies typically assess the pathogenic relevance of
environmental exposures or disease biomarkers, using genetic variants that instrument …

Integrative approaches for large-scale transcriptome-wide association studies

A Gusev, A Ko, H Shi, G Bhatia, W Chung… - Nature …, 2016 - nature.com
Many genetic variants influence complex traits by modulating gene expression, thus altering
the abundance of one or multiple proteins. Here we introduce a powerful strategy that …

[HTML][HTML] Genetic drivers of epigenetic and transcriptional variation in human immune cells

L Chen, B Ge, FP Casale, L Vasquez, T Kwan… - Cell, 2016 - cell.com
Characterizing the multifaceted contribution of genetic and epigenetic factors to disease
phenotypes is a major challenge in human genetics and medicine. We carried out high …

[PDF][PDF] Colocalization of GWAS and eQTL signals detects target genes

F Hormozdiari, M Van De Bunt, AV Segre, X Li… - The American Journal of …, 2016 - cell.com
The vast majority of genome-wide association study (GWAS) risk loci fall in non-coding
regions of the genome. One possible hypothesis is that these GWAS risk loci alter the …

Detection and interpretation of shared genetic influences on 42 human traits

JK Pickrell, T Berisa, JZ Liu, L Ségurel, JY Tung… - Nature …, 2016 - nature.com
We performed a scan for genetic variants associated with multiple phenotypes by comparing
large genome-wide association studies (GWAS) of 42 traits or diseases. We identified 341 …

Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets

Z Zhu, F Zhang, H Hu, A Bakshi, MR Robinson… - Nature …, 2016 - nature.com
Genome-wide association studies (GWAS) have identified thousands of genetic variants
associated with human complex traits. However, the genes or functional DNA elements …

Association of host genome with intestinal microbial composition in a large healthy cohort

W Turpin, O Espin-Garcia, W Xu, MS Silverberg… - Nature …, 2016 - nature.com
Intestinal microbiota is known to be important in health and disease. Its composition is
influenced by both environmental and host factors. Few large-scale studies have evaluated …

[HTML][HTML] An integrated genetic-epigenetic analysis of schizophrenia: evidence for co-localization of genetic associations and differential DNA methylation

E Hannon, E Dempster, J Viana, J Burrage, AR Smith… - Genome biology, 2016 - Springer
Background Schizophrenia is a highly heritable, neuropsychiatric disorder characterized by
episodic psychosis and altered cognitive function. Despite success in identifying genetic …

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

P Surendran, F Drenos, R Young, H Warren, JP Cook… - Nature …, 2016 - nature.com
High blood pressure is a major risk factor for cardiovascular disease and premature death.
However, there is limited knowledge on specific causal genes and pathways. To better …