User profiles for Mark I. McCarthy
Mark McCarthyGenentech Verified email at gene.com Cited by 242030 |
Finding the missing heritability of complex diseases
Genome-wide association studies have identified hundreds of genetic variants associated
with complex human diseases and traits, and have provided valuable insights into their …
with complex human diseases and traits, and have provided valuable insights into their …
Genome-wide association studies for complex traits: consensus, uncertainty and challenges
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 …
common phenotypes of biomedical importance. These advances have been the result of …
[PDF][PDF] Five years of GWAS discovery
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 …
experimental design of genome-wide association studies (GWASs). These studies were …
[HTML][HTML] Analysis of protein-coding genetic variation in 60,706 humans
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 …
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
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 …
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
Understanding the functional consequences of genetic variation, and how it affects complex
human disease and quantitative traits, remains a critical challenge for biomedicine. We …
human disease and quantitative traits, remains a critical challenge for biomedicine. We …
Biological, clinical and population relevance of 95 loci for blood lipids
Plasma concentrations of total cholesterol, low-density lipoprotein cholesterol, high-density
lipoprotein cholesterol and triglycerides are among the most important risk factors for …
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 …
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
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 …
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
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 , …
modestly but reproducibly influence risk of type 2 diabetes (T2D) 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , …