User profiles for Mark I. McCarthy

Mark McCarthy

Genentech
Verified email at gene.com
Cited by 242030

Finding the missing heritability of complex diseases

…, DB Goldstein, LA Hindorff, DJ Hunter, MI McCarthy… - Nature, 2009 - nature.com
Genome-wide association studies have identified hundreds of genetic variants associated
with complex human diseases and traits, and have provided valuable insights into their …

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 of …

[PDF][PDF] 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 …

[HTML][HTML] Analysis of protein-coding genetic variation in 60,706 humans

…, S Kathiresan, M Laakso, S McCarroll, MI McCarthy… - Nature, 2016 - nature.com
Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …

A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity

…, AD Morris, GD Smith, AT Hattersley, MI McCarthy - Science, 2007 - science.org
Obesity is a serious international health problem that increases the risk of several common
diseases. The genetic factors predisposing to obesity are poorly understood. A genome-wide …

The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans

…, JM Goldmann, D Koller, R Guigó, MI McCarthy… - Science, 2015 - science.org
Understanding the functional consequences of genetic variation, and how it affects complex
human disease and quantitative traits, remains a critical challenge for biomedicine. We …

Biological, clinical and population relevance of 95 loci for blood lipids

…, T Meitinger, R McPherson, MI McCarthy… - Nature, 2010 - nature.com
Plasma concentrations of total cholesterol, low-density lipoprotein cholesterol, high-density
lipoprotein cholesterol and triglycerides are among the most important risk factors for …

[HTML][HTML] Age-related clonal hematopoiesis associated with adverse outcomes

…, HM Stringham, MI McCarthy… - … England Journal of …, 2014 - Mass Medical Soc
Background The incidence of hematologic cancers increases with age. These cancers are
associated with recurrent somatic mutations in specific genes. We hypothesized that such …

Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes

…, GA Hitman, AD Morris, ASF Doney, MI McCarthy… - Science, 2007 - science.org
The molecular mechanisms involved in the development of type 2 diabetes are poorly
understood. Starting from genome-wide genotype data for 1924 diabetic cases and 2938 …

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

…, AT Hattersley, FS Collins, L Groop, MI McCarthy… - Nature …, 2008 - nature.com
Genome-wide association (GWA) studies have identified multiple loci at which common variants
modestly but reproducibly influence risk of type 2 diabetes (T2D) 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , …