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Deposited research article

A draft annotation and overview of the human genome

Fred A Wright¹, William J Lemon¹, Wei D Zhao¹, Russell Sears¹, Degen Zhuo¹, Jian-Ping Wang¹, Hee-Yung Yang², Troy Baer³, Don Stredney^3,4, Joe Spitzner², Al Stutz^3,4, Ralf Krahe¹ and Bo Yuan¹

¹Division of Human Cancer Genetics, The Ohio State University, 420 West 12^th Avenue, Columbus, Ohio 43210, USA

²LabBook.Com, 6600 Busch Boulevard, Columbus, Ohio 43229, USA

³Ohio Supercomputer Center (OSC), 1224 Kinnear Road, Columbus, Ohio 43212, USA

⁴Department of Computer and Information Science, The Ohio State University, 2015 Neil Avenue, Columbus, Ohio 43210, USA

author email corresponding author email

Genome Biology 2001, 2:preprint0001.1-0001.39doi:10.1186/gb-2001-2-3-preprint0001

Published:	16 February 2001

This was the first version of this article to be made available publicly. A peer-reviewed and modified version is now available in full at http://genomebiology.com/2001/2/7/research/0025

Subject areas: Genome studies

Abstract

The recent draft assembly of the human genome provides a unified basis for describing genomic structure and function. The draft is sufficiently accurate to provide useful annotation, enabling direct observations of previously-inferred biological phenomena. We report a functionally annotated human gene index placed directly on the genome. The index is based on the integration of public transcript, protein, and mapping information, supplemented with computational prediction. Such a global approach has been described only for chromosomes 21 and 22, which together account for 2.2% of the genome. We estimate that the genome contains 65,000-75,000 transcriptional units, with exonic sequences comprising 4%.