Modern genotyping technologies offer new opportunities to explore how genes influence health and disease, but also present the challenge of analyzing huge amounts of genetic and clinical data.

Ten years ago, the Chinese National Human Genome Center at Shanghai (South Center, hereafter) was established in the Zhangjiang HiTech Park of Pudong District in Shanghai. To commemorate this important event, which marks the beginning of the Genomics Era in China, we specially organize a series of mini-reviews for this special issue.

For the first time, scientists have decoded the complete DNA of a cancer patient and traced her disease - acute myelogenous leukemia - to its genetic roots. A large research team at the Genome Sequencing Center and the Siteman Cancer Center at Washington University School of Medicine in St. Louis sequenced the genome of the patient - a woman in her 50s who ultimately died of her disease - and the genome of her leukemia cells, to identify genetic changes unique to her cancer.

The Wellcome Trust Sanger Institute has sequenced the equivalent of 300 human genomes in just over six months. The Institute has just reached the staggering total of 1,000,000,000,000 letters of genetic code that will be read by researchers worldwide, helping them to understand the role of genes in health and disease.

A global team of legal, scientific and ethics experts have put forward eight key recommendations to establish much needed guidelines for conducting human-genome sequencing research.

Scientists in London, Washington and Shenzhen on Tuesday jointly launched the 1,000 Genomes Project, which will involve sequencing the genomes of at least 1,000 people worldwide to create the most detailed and medically useful picture of human genetic variation yet.

Scientists at Cold Spring Harbor Laboratory (CSHL) have developed a new means of extracting and interpreting data from the human genome that is more powerful and more economical than methods currently employed.

The International HapMap Consortium today published analyses of its second-generation map of human genetic variation, which contains three times more markers than the initial version unveiled in 2005.

The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), has awarded University of Washington researchers $10.8 million as part of a national effort to expand the ENCyclopedia of DNA Elements (ENCODE) project.

The University of Washington and Fred Hutchinson Cancer Research Center have been awarded a four-year $4.8 million contract by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health to coordinate activities for several whole-genome studies of human disease.

Scientists have only recently begun to speculate that what’s referred to as “junk” DNA – the 96 percent of the human genome that doesn’t encode for proteins and previously seemed to have no useful purpose – is present in the genome for an important reason.

A major new effort to uncover the medium- and large-scale genetic differences between humans may soon reveal DNA sequences that contribute to a wide range of diseases, according to a paper by Howard Hughes Medical Institute investigator Evan Eichler and 17 colleagues published in the May 10, 2007, Nature.