Identification of non-coding silencer elements and their regulation of gene expression

B Pang, JH van Weerd, FL Hamoen… - … Reviews Molecular Cell …, 2023 - nature.com
Cell type-and differentiation-specific gene expression is precisely controlled by genomic non-
coding regulatory elements (NCREs), which include promoters, enhancers, silencers and …

Five years of GWAS discovery

PM Visscher, MA Brown, MI McCarthy… - The American Journal of …, 2012 - cell.com
The past five years have seen many scientific and biological discoveries made through the
experimental design of genome-wide association studies (GWASs). These studies were …

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 …

Beyond GWASs: illuminating the dark road from association to function

SL Edwards, J Beesley, JD French… - The American Journal of …, 2013 - cell.com
Genome-wide association studies (GWASs) have enabled the discovery of common genetic
variation contributing to normal and pathological traits and clinical drug responses, but …

Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits

J Yang, T Ferreira, AP Morris, SE Medland… - Nature …, 2012 - nature.com
We present an approximate conditional and joint association analysis that can use summary-
level statistics from a meta-analysis of genome-wide association studies (GWAS) and …

Genetic architectures of psychiatric disorders: the emerging picture and its implications

PF Sullivan, MJ Daly, M O'donovan - Nature Reviews Genetics, 2012 - nature.com
Psychiatric disorders are among the most intractable enigmas in medicine. In the past 5
years, there has been unprecedented progress on the genetics of many of these conditions …

A mega-analysis of genome-wide association studies for major depressive disorder

… Depressive Disorder Working Group of the … - Molecular …, 2012 - pmc.ncbi.nlm.nih.gov
Prior genome-wide association studies (GWAS) of major depressive disorder (MDD) have
met with limited success. We sought to increase statistical power to detect disease loci by …

A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer

AA Al Olama, Z Kote-Jarai, SI Berndt, DV Conti… - Nature …, 2014 - nature.com
Genome-wide association studies (GWAS) have identified 76 variants associated with
prostate cancer risk predominantly in populations of European ancestry. To identify …

Large-scale genotyping 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∼ …