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Updated: Mar 14, 2026
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Ultra-long Read Sequencing for Whole Genomic DNA Analysis
Published on: March 15, 2019
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Deep sequencing of 10,000 human genomes
Amalio Telenti1, Levi C T Pierce2, William H Biggs3
1Human Longevity Inc., San Diego, CA 92121; J. Craig Venter Institute, La Jolla, CA 92037.
Summary
Sequencing 10,545 human genomes reveals high-quality data, with 84% confidently sequenced. This deep genome sequencing provides valuable insights into genetic variation for potential clinical applications.
Area of Science:
- Genomics
- Human Genetics
- Bioinformatics
Background:
- The human genome project laid the foundation for large-scale sequencing efforts.
- Advancements in sequencing technology enable deeper and more comprehensive analysis of the human genome.
- Understanding genomic variation is crucial for identifying disease-associated genetic factors.
Purpose of the Study:
- To report on the comprehensive sequencing of 10,545 human genomes with high coverage.
- To emphasize quality metrics and discover novel variants and sequences.
- To assess the clinical utility of deep genome sequencing data.
Main Methods:
- Whole-genome sequencing of 10,545 individuals at 30×-40× coverage.
- Quality control assessment of sequencing data.
- Variant calling and analysis of single-nucleotide variants (SNVs).
- Comparison with the hg38 reference genome.
Main Results:
- 84% of an individual human genome was confidently sequenced, covering 91.5% of exons and 95.2% of known pathogenic variants.
- Over 150 million SNVs were identified across coding and noncoding regions.
- Each genome contributed an average of 8,579 novel variants.
- An average of 0.7 Mb of novel sequence per genome was identified compared to the hg38 reference.
Conclusions:
- Deep genome sequencing generates high-quality data suitable for clinical applications.
- The comprehensive catalog of human genetic variation provides insights into genomic intolerance.
- This study significantly expands the understanding of human genomic diversity and variation.
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