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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
The sequence of the human genome.
J C Venter1, M D Adams, E W Myers
1Celera Genomics, 45 West Gude Drive, Rockville, MD 20850, USA. humangenome@celera.com
Science (New York, N.Y.)
|February 22, 2001
Summary
The human genome sequence reveals over 38,000 protein-encoding transcripts and millions of single-nucleotide polymorphisms (SNPs), offering insights into evolution and disease. This comprehensive human genome map provides a foundation for future genetic research.
Area of Science:
- Genomics
- Human Genetics
- Molecular Biology
Background:
- The Human Genome Project aimed to sequence the entire human genome.
- Understanding the human genome is crucial for advancing medicine and biology.
Purpose of the Study:
- To generate a high-quality, comprehensive sequence of the euchromatic portion of the human genome.
- To identify protein-encoding transcripts and genetic variations like single-nucleotide polymorphisms (SNPs).
Main Methods:
- Whole-genome shotgun sequencing of DNA from five individuals.
- Combined sequence data from Celera and public genome efforts using two assembly strategies.
- Analysis of sequence reads for gene identification and SNP discovery.
Main Results:
- A 2.91-billion base pair (bp) consensus sequence of the human genome was generated.
- Identified 26,588 protein-encoding transcripts with strong evidence and ~12,000 additional predicted genes.
- Located 2.1 million single-nucleotide polymorphisms (SNPs), revealing significant genomic heterogeneity.
Conclusions:
- The generated human genome sequence effectively covers euchromatic regions and provides a detailed map.
- The findings illuminate gene distribution, noncoding DNA, segmental duplications, and evolutionary history.
- The identification of numerous SNPs provides a resource for studying human genetic variation and its functional consequences.
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