Genome-wide association studies for complex traits: consensus, uncertainty and challenges

MI McCarthy, GR Abecasis, LR Cardon… - Nature reviews …, 2008 - nature.com
The past year has witnessed substantial advances in understanding the genetic basis of
many common phenotypes of biomedical importance. These advances have been the result …

Linkage disequilibrium—understanding the evolutionary past and map** the medical future

M Slatkin - Nature Reviews Genetics, 2008 - nature.com
Linkage disequilibrium—the nonrandom association of alleles at different loci—is a sensitive
indicator of the population genetic forces that structure a genome. Because of the explosive …

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

K Michailidou, J Beesley, S Lindstrom, S Canisius… - Nature …, 2015 - nature.com
Genome-wide association studies (GWAS) and large-scale replication studies have
identified common variants in 79 loci associated with breast cancer, explaining∼ 14% of the …

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

RL Milne, KB Kuchenbaecker, K Michailidou… - Nature …, 2017 - nature.com
Most common breast cancer susceptibility variants have been identified through genome-
wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease …

[HTML][HTML] The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis

… -6 Receptor Mendelian Randomisation Analysis (IL6R … - The Lancet, 2012 - Elsevier
BACKGROUND: A high circulating concentration of interleukin 6 is associated with
increased risk of coronary heart disease. Blockade of the interleukin-6 receptor (IL6R) with a …

Large-scale genoty** identifies 41 new loci associated with breast cancer risk

K Michailidou, P Hall, A Gonzalez-Neira… - Nature …, 2013 - nature.com
Breast cancer is the most common cancer among women. Common variants at 27 loci have
been identified as associated with susceptibility to breast cancer, and these account for∼ …

The landscape of long noncoding RNAs in the human transcriptome

MK Iyer, YS Niknafs, R Malik, U Singhal, A Sahu… - Nature …, 2015 - nature.com
Long noncoding RNAs (lncRNAs) are emerging as important regulators of tissue physiology
and disease processes including cancer. To delineate genome-wide lncRNA expression …

STrengthening the REporting of Genetic Association Studies (STREGA)—an extension of the STROBE statement

J Little, JPT Higgins, JPA Ioannidis… - … Official Publication of …, 2009 - Wiley Online Library
Making sense of rapidly evolving evidence on genetic associations is crucial to making
genuine advances in human genomics and the eventual integration of this information in the …

How to interpret a genome-wide association study

TA Pearson, TA Manolio - Jama, 2008 - jamanetwork.com
Genome-wide association (GWA) studies use high-throughput genoty** technologies to
assay hundreds of thousands of single-nucleotide polymorphisms (SNPs) and relate them to …

[HTML][HTML] Breast cancer: origins and evolution

K Polyak - The Journal of clinical investigation, 2007 - Am Soc Clin Investig
Breast cancer is not a single disease, but rather is composed of distinct subtypes associated
with different clinical outcomes. Understanding this heterogeneity is key for the development …