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

Breast carcinoma is the leading cause of cancer-related mortality in women worldwide, with
an estimated 1.38 million new cases and 458,000 deaths in 2008 alone 1 . This malignancy …

Multiple myeloma is an incurable malignancy of plasma cells, and its pathogenesis is poorly
understood. Here we report the massively parallel sequencing of 38 tumour genomes and …

Rheumatoid arthritis (RA) is the most common systemic autoimmune disease, affecting ∼1%
of the adult population worldwide, with an estimated heritability of 60%. To identify genes …

To identify new genetic risk factors for rheumatoid arthritis, we conducted a genome-wide
association study meta-analysis of 5,539 autoantibody-positive individuals with rheumatoid …

To identify susceptibility loci for bipolar disorder, we tested 1.8 million variants in 4,387 cases
and 6,209 controls and identified a region of strong association (rs10994336, P = 9.1 × 10 −…

We performed a multitiered, case-control association study of psoriasis in three independent
sample sets of white North American individuals (1,446 cases and 1,432 controls) with …

Transcriptional regulation and posttranscriptional processing underlie many cellular and
organismal phenotypes. We used RNA sequence data generated by Genotype-Tissue …

Particular alleles at neighbouring loci tend to be co-inherited. For tightly linked loci, this
might lead to associations between alleles in the population — a property known as linkage …

The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic
architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of …