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Updated: Jun 18, 2026
10:34
Ultra-long Read Sequencing for Whole Genomic DNA Analysis
Published on: March 15, 2019
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays
Radoje Drmanac1, Andrew B Sparks, Matthew J Callow
1Complete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USA. rdrmanac@completegenomics.com
Science (New York, N.Y.)
|November 7, 2009
Summary
This study presents a new genome sequencing platform that is accurate, affordable, and scalable. It enables efficient human genome sequencing for large genetic studies and disease research.
Area of Science:
- Genomics
- Molecular Biology
- Bioinformatics
Background:
- Genome sequencing is crucial for understanding human diseases.
- Existing platforms face challenges in efficiency and cost.
- Advancements are needed for large-scale genetic studies.
Purpose of the Study:
- To describe a novel genome sequencing platform.
- To evaluate its efficiency, accuracy, and cost.
- To demonstrate its utility for human genome sequencing.
Main Methods:
- Utilized combinatorial probe anchor ligation chemistry.
- Employed patterned nanoarrays of self-assembling DNA nanoballs.
- Sequenced three human genomes with high coverage.
Main Results:
- Achieved 45- to 87-fold coverage per genome.
- Identified 3.2 to 4.5 million sequence variants per genome.
- Demonstrated high accuracy (1 false variant per 100 kilobases).
Conclusions:
- The platform offers efficient imaging and low reagent consumption.
- Affordable cost ($4400 consumables) and scalability are key advantages.
- Enables complete human genome sequencing for rare variant detection in large studies.
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