DNA microarrays can be used to identify gene expression changes characteristic of human
disease. This is challenging, however, when relevant differences are subtle at the level of …

Understanding the functional consequences of genetic variation, and how it affects complex
human disease and quantitative traits, remains a critical challenge for biomedicine. We …

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 …

Most common diseases are complex genetic traits, with multiple genetic and environmental
components contributing to susceptibility. It has been proposed that common genetic variants…

Genetic factors strongly affect susceptibility to common diseases and also influence disease-related
quantitative traits. Identifying the relevant genes has been difficult, in part because …

New strategies for prevention and treatment of type 2 diabetes (T2D) require improved insight
into disease etiology. We analyzed 386,731 common single-nucleotide polymorphisms (…

Association studies offer a potentially powerful approach to identify genetic variants that
influence susceptibility to common disease 1, 2, 3, 4, but are plagued by the impression that they …

Genetic association studies are viewed as problematic and plagued by irreproducibility 1.
Many associations have been reported for type 2 diabetes 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, …

To identify common variants influencing body mass index (BMI), we analyzed genome-wide
association data from 16,876 individuals of European descent. After previously reported …

The discovery of rare genetic variants is accelerating, and clear guidelines for distinguishing
disease-causing sequence variants from the many potentially functional variants present in …