studying chromosome-wide transcriptional networks new insights into disease研究chromosome-wide转录网络疾病的新见解.pdfVIP

Commentary SSttuuddyyiinngg cchhrroommoossoommee--wwiiddee ttrraannssccrriippttiioonnaall nneettwwoorrkkss:: nneeww iinnssiigghhttss iinnttoo ddiisseeaassee?? Philipp Kapranov Address: Helicos BioSciences Corporation, One Kendall Square Bldg 700, Cambridge, MA 02139, USA. E-mail: philippk08@ Published: 11 May 2009 Genome Medicine 2009, 11::50 (doi:10.1186/gm50) The electronic version of this article is the complete one and can be found online at /content/1/5/50 © 2009 BioMed Central Ltd AAbbssttrraacctt A large amount of experimental data collected over the last decade has shown that genomic organization is very complex and has highlighted the fact that the current set of gene annotations does not fully capture this complexity. Much of the RNA detected in a cell is found to originate from outside the exons of annotated genes. Exons of annotated and unannotated transcripts separated by large genomic distances can be joined together in chimeric transcripts. Any given base-pair in a genome could be traversed by many protein-coding and non-coding RNAs. We discuss the implications of these effects for our understanding of disease. The interpretation of sequence polymorphism data, such as and thus the phenotypic effect of a nucleotide change is the data produced in large amounts from genome-wide likely to be represented as a sum of the effects on the association studies, is largely based on the concept of a gene transcripts that express it. It is likely that the profile of as a stand-alone, separate genomic entity with discrete start expressed transcripts is different in each tissue [9], and the and en