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Ultra-long Read Sequencing for Whole Genomic DNA Analysis
Published on: March 15, 2019
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Co-barcoded sequence reads from long DNA fragments: a cost-effective solution for "perfect genome" sequencing
Brock A Peters1, Jia Liu2, Radoje Drmanac1
1Department of Research, Complete Genomics Inc., Mountain View CA, USA ; BGI, Shenzhen China.
Frontiers in Genetics
|February 3, 2015
Summary
Next generation sequencing (NGS) has revolutionized genomics, sequencing over 100,000 human genomes. However, achieving a "perfect genome" requires further advancements in sequencing technology for deeper biological understanding.
Area of Science:
- Genomics
- Bioinformatics
- Molecular Biology
Background:
- Next generation sequencing (NGS) technologies have transformed global research by enabling rapid genome analysis across thousands of species.
- Human genome sequencing, utilizing NGS, has provided profound insights into individual uniqueness and disease etiology, with over 100,000 genomes analyzed.
Purpose of the Study:
- To highlight the importance of a complete and accurate human genome sequence.
- To identify the limitations of current whole genome sequencing data.
- To propose a cost-effective strategy for achieving a "perfect genome".
Main Methods:
- Review of current next generation sequencing (NGS) capabilities and limitations.
- Analysis of existing human whole genome sequence data.
- Development of a strategic approach for future genome sequencing initiatives.
Main Results:
- NGS technologies have significantly advanced genomic research but have not yet produced a "perfect genome" sequence.
- Current human genome sequences lack completeness, hindering a full understanding of genomic biology.
- A viable strategy for cost-effective "perfect genome" achievement is proposed.
Conclusions:
- The pursuit of a "perfect genome" is crucial for comprehensive biological understanding.
- Addressing the shortcomings of current sequencing technologies is essential.
- Implementing a strategic approach can lead to more complete and accurate human genome sequences.
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