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Published on: April 25, 2016
Accurate whole human genome sequencing using reversible terminator chemistry
David R Bentley1, Shankar Balasubramanian, Harold P Swerdlow
1Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK. dbentley@illumina.com
Nature
|November 7, 2008
Summary
This study introduces a low-cost, high-throughput DNA sequencing method for rapid whole-genome re-sequencing. The approach accurately identifies millions of genetic variations, advancing biomedical research.
Area of Science:
- Genomics
- Molecular Biology
- Bioinformatics
Background:
- DNA sequencing is crucial for genetic research and medical discoveries.
- Traditional long-read sequencing is being complemented by faster re-sequencing approaches using reference genomes.
- Identifying genetic variations within species is a key goal of modern genomics.
Purpose of the Study:
- To develop a novel, cost-effective, and rapid DNA sequencing approach.
- To generate billions of accurate nucleotide sequences per experiment.
- To demonstrate the utility of this method for whole-genome re-sequencing and variant characterization.
Main Methods:
- Utilizing single DNA molecules attached to a surface for in situ amplification.
- Employing synthetic sequencing with fluorescent reversible terminator deoxyribonucleotides.
- Analyzing surface images to generate high-quality DNA sequence data.
Main Results:
- Generated billions of bases of accurate nucleotide sequence at low cost.
- Successfully performed whole-genome re-sequencing on human X chromosomes and a Nigerian Yoruba individual.
- Characterized millions of single-nucleotide polymorphisms and hundreds of thousands of structural variants, including previously unknown ones.
Conclusions:
- The developed sequencing approach is accurate, rapid, and economical for whole-genome re-sequencing.
- This method has broad applicability for various biomedical research areas.
- Enables efficient identification of genetic variations for advancing biological and medical understanding.
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