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A draft annotation and overview of the human genome
F A Wright1, W J Lemon, W D Zhao
1Division of Human Cancer Genetics, The Ohio State University, 420 W 12th Avenue, Columbus, OH 43210, USA.
Genome Biology
|August 23, 2001
Summary
The human genome draft assembly enables a comprehensive gene index, revealing gene density and chromosomal organization. This integrated approach provides a foundational resource for understanding human genomic structure and function.
Area of Science:
- Genomics
- Human Genetics
- Bioinformatics
Background:
- The human genome draft assembly offers a unified framework for genomic structure and function analysis.
- The assembly's accuracy supports detailed annotation and direct observation of biological phenomena.
Purpose of the Study:
- To create a functionally annotated human gene index directly on the genome assembly.
- To analyze global genomic features and their relationship with the assembly.
- To investigate chromosomal landscapes and gene organization.
Main Methods:
- Integration of public transcript, protein, and mapping data.
- Supplementation with computational prediction methods.
- Sequence analysis of the human genome assembly.
Main Results:
- A functionally annotated human gene index has been generated.
- Global genomic features, including gene density and number, align with historical estimates.
- Analysis revealed ordered chromosomal landscapes with paralogous gene clusters and functional compartments.
Conclusions:
- The human genome is estimated to contain 65,000-75,000 transcriptional units.
- Exon sequences constitute approximately 4% of the genome.
- A comprehensive gene index necessitates the integration of all available computational and experimental evidence.