amy l. mcguire baylor college of medicine email

The promise of personalized genomics is not new it was almost 20 years ago that the New York Times published an article that predicted: ‘In the not-so-distant future, we can expect to walk into a physician's office for an annual physical and walk out with a blueprint of our genetic inheritance – and with the knowledge of the most likely cause of our own death’. By creating an important scientific resource, the project will help advance understanding of the complex relationship between genetic variation and human health and disease. The 1000 Genomes Project represents a major step forward on the road to personalized genomic medicine. The third will sequence the coding regions (exons) of approximately 1000–2000 gene regions in 1000 people at deep coverage (20×).

The second will sequence the genomes of 180 people at low coverage (2×). The first will sequence the genomes of two nuclear families (an adult child and both parents) at deep coverage (20×). The first phase of the Project will involve three pilot studies. Investigators will not only look for single letter changes in the genome (called SNPs), but will also look for differences in structural variants in the genome (segments of the genome that have been rearranged, deleted or duplicated). Building on the International HapMap Project, the 1000 Genomes Project will utilize new sequencing technologies to catalog genetic variants that are present in the human population across most of the genome at a rate of 1% or greater frequency.

The recently announced 1000 Genomes Project is an international collaboration to sequence 1000 individuals in an effort to produce the most complete catalog of human genetic variation to date.

Amy l. mcguire baylor college of medicine email