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Updated: Jul 5, 2026
10:34
Ultra-long Read Sequencing for Whole Genomic DNA Analysis
Published on: March 15, 2019
Mapping and sequencing of structural variation from eight human genomes
Jeffrey M Kidd1, Gregory M Cooper, William F Donahue
1Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA.
Nature
|May 3, 2008
Summary
This study maps intermediate-scale genetic variations, including insertions and deletions, in the human genome. Researchers identified numerous new structural variants and their patterns across diverse populations.
Area of Science:
- Genomics
- Human Genetics
- Molecular Biology
Background:
- Human genetic variation spans multiple scales, from large chromosomal changes to single nucleotide polymorphisms.
- Intermediate-scale structural variations (insertions, deletions, inversions) are crucial for understanding genome diversity.
Purpose of the Study:
- To characterize intermediate-scale structural variations in the human genome.
- To provide a high-resolution sequence map of human structural variation.
- To investigate the mutational processes shaping the human genome.
Main Methods:
- Employed a clone-based method to analyze structural variation.
- Interrogated structural variation in eight individuals of diverse geographic ancestry.
- Performed complete sequencing of identified structural variants.
Main Results:
- Refined the location of 1,695 structural variants, with 50% found in multiple individuals.
- Discovered 525 new insertion sequences not present in the human reference genome.
- Revealed considerable locus complexity and insights into genome shaping mutational processes.
Conclusions:
- Established the first high-resolution sequence map of human structural variation.
- Provided a standard for genotyping platforms and future individual genome sequencing.
- Highlighted the prevalence and novelty of structural variations across diverse ancestries.
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