Pleiotropy in complex traits: challenges and strategies

N Solovieff, C Cotsapas, PH Lee, SM Purcell… - Nature Reviews …, 2013 - nature.com
Genome-wide association studies have identified many variants that each affects multiple
traits, particularly across autoimmune diseases, cancers and neuropsychiatric disorders …

Unravelling the human genome–phenome relationship using phenome-wide association studies

WS Bush, MT Oetjens, DC Crawford - Nature Reviews Genetics, 2016 - nature.com
Advances in genotyping technology have, over the past decade, enabled the focused
search for common genetic variation associated with human diseases and traits. With the …

Lumbar disc degeneration and genetic factors are the main risk factors for low back pain in women: the UK Twin Spine Study

G Livshits, M Popham, I Malkin, PN Sambrook… - Annals of the …, 2011 - ard.bmj.com
Objective Low back pain (LBP) is a common musculoskeletal disorder, but it is still unclear
which individuals develop it. The authors examined the contribution of genetic factors …

Genome wide association studies for milk production traits in Chinese Holstein population

L Jiang, J Liu, D Sun, P Ma, X Ding, Y Yu, Q Zhang - PloS one, 2010 - journals.plos.org
Genome-wide association studies (GWAS) based on high throughput SNP genotyping
technologies open a broad avenue for exploring genes associated with milk production traits …

Statistical methods to detect pleiotropy in human complex traits

S Hackinger, E Zeggini - Open biology, 2017 - royalsocietypublishing.org
In recent years pleiotropy, the phenomenon of one genetic locus influencing several traits,
has become a widely researched field in human genetics. With the increasing availability of …

A comparison of multivariate genome-wide association methods

TE Galesloot, K Van Steen, LALM Kiemeney, LL Janss… - PloS one, 2014 - journals.plos.org
Joint association analysis of multiple traits in a genome-wide association study (GWAS), ie.
a multivariate GWAS, offers several advantages over analyzing each trait in a separate …

Arguments for the sake of endophenotypes: examining common misconceptions about the use of endophenotypes in psychiatric genetics

DC Glahn, EEM Knowles, DR McKay… - American Journal of …, 2014 - Wiley Online Library
Endophenotypes are measurable biomarkers that are correlated with an illness, at least in
part, because of shared underlying genetic influences. Endophenotypes may improve our …

Identification of genetic variants associated with alternative splicing using sQTLseekeR

J Monlong, M Calvo, PG Ferreira, R Guigó - Nature communications, 2014 - nature.com
Identification of genetic variants affecting splicing in RNA sequencing population studies is
still in its infancy. Splicing phenotype is more complex than gene expression and ought to be …

Application of advanced statistics in ophthalmology

Q Fan, YY Teo, SM Saw - Investigative ophthalmology & visual …, 2011 - iovs.arvojournals.org
Statistics is an integral part of research in ophthalmology. The application of appropriate
statistical strategies allows clinicians to realize the full potential in analyzing data from …

Methods for analyzing multivariate phenotypes in genetic association studies

Q Yang, Y Wang - Journal of probability and statistics, 2012 - Wiley Online Library
Multivariate phenotypes are frequently encountered in genetic association studies. The
purpose of analyzing multivariate phenotypes usually includes discovery of novel genetic …