tailieunhanh - Báo cáo y học: "Large-scale discovery and validation of functional elements in the human genome"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học quốc tế cung cấp cho các bạn kiến thức về ngành y đề tài: Large-scale discovery and validation of functional elements in the human genome. | Meeting report Large-scale discovery and validation of functional elements in the human genome Bradley E Bernstein and Manolis Kellis Addresses Broad Institute of Harvard and Massachusetts Institute of Technology Cambridge MA 02139 USA. Department of Pathology Brigham and Women s Hospital and Harvard Medical School Boston MA 02115 USA. MIT Computer Science and Artificial Intelligence Laboratory The Stata Center 32 Vassar Street Cambridge MA 02139 USA. Correspondence Bradley E Bernstein. E-mail bbernst@. Manolis Kellis. E-mail manoli@ Published I March 2005 Genome Biology 2005 6 312 The electronic version of this article is the complete one and can be found online at http 2005 6 3 312 2005 BioMed Central Ltd A report on the genomics workshop Identification of Functional Elements in Mammalian Genomes Cold Spring Harbor New York 11-13 November 2004. Computational and experimental genomics researchers convened at Cold Spring Harbor Laboratory at the end of 2004 to address the ambitious goal of identifying all the functional elements in the human genome. The functional elements discussed at the meeting included protein-coding genes regulatory elements RNA genes and DNA sequences that dictate chromosome structure or replication. The presentations described diverse approaches to the problem ranging from innovative comparative genomic methods to high-throughput functional assays designed to identify and validate such elements. The meeting followed a gathering of the ENCODE consortium which aims to identify a comprehensive Encyclopedia of DNA elements in the human genome http 10005107 . The consortium organized and funded by the National Human Genome Research Institute is initially focusing on designated regions comprising approximately 1 of the human genome and it strongly emphasizes technology development. Participating laboratories are developing computational techniques for sequence assembly gene identification and