musings on genome medicine genome wide association studies沉思在基因组医学全基因组关联研究.pdfVIP

Musings MMuussiinnggss oonn ggeennoommee mmeeddiicciinnee:: ggeennoommee wwiiddee aassssoocciiaattiioonn ssttuuddiieess David G Nathan and Stuart H Orkin Address: Dana-Farber Cancer Institute, 44 Binney Street, Boston, MA 02115, USA. Correspondence: David G Nathan. Email: david_nathan@ Published: 20 January 2009 Genome MMeeddiicciinnee 2009, 11::3 (doi:10.1186/gm3) The electronic version of this article is the complete one and can be found online at /content/1/1/3 © 2009 BioMed Central Ltd We are grateful to the editors of Genome Medicine, who have machines humming. The doubts were, in fact, quite loud in rather incautiously invited us to write a monthly commentary some quarters, despite the obvious fact that the project has on the exciting events that have occurred in this burgeoning provided investigators with ready access to all genes and field. We have decided to write the column together because facilitated positional cloning (see below). one of us (DGN) is a clinical investigator and the other (SHO) is a basic geneticist and developmental biologist. Together, Responding to the criticism, and always ebulliently opti- we believe we can do justice to the field and eschew cant. We mistic, Francis Collins, the guiding spirit of the public effort begin with a discussion of the controversial role of genome- to sequence the human genome, simply changed the subject. wide association studies in clinical medicine. He proposed the human HapMap project [6] to replace laborious and relatively crude restriction enzyme maps. Now The development of practical approaches to DNA sequen- the National Institutes of