Genome-wide association studies (GWAS) have evolved over the last ten years into a
powerful tool for investigating the genetic architecture of human disease. In this work, we …

Despite considerable progress in genome-and proteome-based high-throughput screening
methods and in rational drug design, the increase in approved drugs in the past decade did …

Exhausted T cells in cancer and chronic viral infection express distinctive patterns of genes,
including sustained expression of programmed cell death protein 1 (PD-1). However, the …

A key goal of whole-genome sequencing for studies of human genetics is to interrogate all
forms of variation, including single-nucleotide variants, small insertion or deletion (indel) …

The analysis of exonic DNA from prostate cancers has identified recurrently mutated genes,
but the spectrum of genome-wide alterations has not been profiled extensively in this …

Prostate cancer is the second most common cancer in men worldwide and causes over
250,000 deaths each year. Overtreatment of indolent disease also results in significant …

The incidence of esophageal adenocarcinoma (EAC) has risen 600% over the last 30 years.
With a 5-year survival rate of∼ 15%, the identification of new therapeutic targets for EAC is …

Head and neck squamous cell carcinoma (HNSCC) is a common, morbid, and frequently
lethal malignancy. To uncover its mutational spectrum, we analyzed whole-exome …

Barrett's esophagus is thought to progress to esophageal adenocarcinoma (EAC) through a
stepwise progression with loss of CDKN2A followed by TP53 inactivation and aneuploidy …

A major challenge in genetics is to identify genetic variants driving natural phenotypic
variation. However, current methods of genetic mapping have limited resolution. To address …