Genomic Sequence Workshop Summary

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services

Workshop Summary

The Comprehensive Extraction of Biological Information from Genomic Sequence
National Human Genome Research Institute

Bethesda, Md.
July 23-24, 2002

Purpose of the Workshop: This workshop was held to discuss a National Human Genome Research Institute (NHGRI) proposal to initiate a new, highly interactive public research consortium to carry out a pilot project for testing and comparing existing and new methods to identify functional sequences in DNA.The premise for the workshop was as follows:

A number of computational and experimental ¿wet bench¿ approaches have been developed to identify and characterize the encoded functional elements in genomic DNA sequence. However, no single strategy is yet able to identify all of the coding sequences in the human genome, and different approaches actually identify different, only partially overlapping sets of coding sequences. As for other sequence-based functional elements (e.g., regulatory regions, non-coding RNA sequences, elements involved in chromosome structure and function), few if any comprehensive approaches have even been devised for testing.

NHGRI¿s intent in proposing the new consortium is to encourage discussion and comparison of existing computational and experimental approaches and to stimulate the development of new ones. The institute hopes, that by working together in a highly cooperative effort to rigorously analyze a defined portion of the human genome sequence, investigators with diverse backgrounds and expertise will be able to evaluate the relative merits of each of a diverse set of techniques, technologies and strategies in identifying all the functional elements in human genomic sequence, to identify gaps in our ability to annotate genomic sequence, and to consider the abilities of such methods to be scaled up for analyzing the entire human genome.

The consortium, as envisioned, would be open to all academic, government and private sector scientists interested in participating in an open process to facilitate the comprehensive interpretation of the human genome sequence. By initially concentrating on a limited region of the human genome, the institute hopes that all of those who have experience and insight into the problem will be willing to participate, whether or not their approaches are proprietary or have already generated proprietary data. In this way, the activities of the consortium could be influential in helping to guide the planning for a complete public elucidation of functional elements within the entire human genome.

Summary of Workshop Discussion: The workshop began with a series of presentations on computational annotation and experimental approaches to biological confirmation of functional elements in the genomes of both model organisms and the human. Subsequent to those discussions, NHGRI outlined its proposal for a pilot project to exhaustively determine all functional elements in a small fraction (~1 percent) of the human genome, which the workshop participants strongly endorsed. The workshop participants then discussed a number of issues that need to be addressed in order to implement the proposed pilot project. The following outlines the highlights of these discussions.

Top of page

Last Reviewed: January 2006