Progress and promise in understanding the genetic basis of common diseases

AL Price, CCA Spencer… - Proceedings of the …, 2015 - royalsocietypublishing.org
Susceptibility to common human diseases is influenced by both genetic and environmental
factors. The explosive growth of genetic data, and the knowledge that it is generating, are …

Identification of loci associated with schizophrenia by genome-wide association and follow-up

…, S Dwyer, P Holmans, JL Marchini, CCA Spencer… - Nature …, 2008 - nature.com
We carried out a genome-wide association study of schizophrenia (479 cases, 2,937 controls)
and tested loci with P < 10 −5 in up to 16,726 additional subjects. Of 12 loci followed up, 3 …

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

…, DM Evans, CCA Spencer… - Nature …, 2011 - nature.com
Ankylosing spondylitis is a common form of inflammatory arthritis predominantly affecting
the spine and pelvis that occurs in approximately 5 out of 1,000 adults of European descent. …

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

…, G Band, RD Pearson, D Vukcevic, CCA Spencer… - Nature …, 2012 - nature.com
To gain further insight into the genetic architecture of psoriasis, we conducted a meta-analysis
of 3 genome-wide association studies (GWAS) and 2 independent data sets genotyped …

[HTML][HTML] Genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1

A Strange, F Capon, CCA Spencer, J Knight… - Nature …, 2010 - ncbi.nlm.nih.gov
(WTCCC2) consortia is provided in the Supplementary Note online. Author Contributions FC,
ADB, CEMG, J. Kere., A. Reis, JNB and RCT oversaw cohort collection for both the …

[HTML][HTML] Designing genome-wide association studies: sample size, power, imputation, and the choice of genotyping chip

CCA Spencer, Z Su, P Donnelly, J Marchini - PLoS genetics, 2009 - journals.plos.org
Genome-wide association studies are revolutionizing the search for the genes underlying
human complex diseases. The main decisions to be made at the design stage of these studies …

Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A

, … Morris Andrew P. 6 Spencer Chris CA 14 Tobin Martin … - Nature, 2007 - nature.com
The major histocompatibility complex (MHC) on chromosome 6 is associated with susceptibility
to more common diseases than any other region of the human genome, including almost …

Multiple populations of artemisinin-resistant Plasmodium falciparum in Cambodia

…, JC Rayner, CI Newbold, M Berriman, CCA Spencer… - Nature …, 2013 - nature.com
We describe an analysis of genome variation in 825 P. falciparum samples from Asia and
Africa that identifies an unusual pattern of parasite population structure at the epicenter of …

[HTML][HTML] Genetic architecture of artemisinin-resistant Plasmodium falciparum

…, CV Plowe, NP Day, AM Dondorp, CCA Spencer… - Nature …, 2015 - nature.com
We report a large multicenter genome-wide association study of Plasmodium falciparum
resistance to artemisinin, the frontline antimalarial drug. Across 15 locations in Southeast Asia, …

FINEMAP: efficient variable selection using summary data from genome-wide association studies

C Benner, CCA Spencer, AS Havulinna… - …, 2016 - academic.oup.com
Motivation: The goal of fine-mapping in genomic regions associated with complex diseases
and traits is to identify causal variants that point to molecular mechanisms behind the …