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Shotgun sequence assembly and recent segmental duplications within the human genome

Xinwei She1, Zhaoshi Jiang, Royden A Clark

  • 1Department of Genome Sciences, University of Washington School of Medicine, 1705 NE Pacific Street, Seattle, Washington 98195, USA.

Nature
|October 22, 2004
PubMed
Summary

Whole-genome shotgun (WGS) sequencing struggles to accurately assemble large, highly similar repeats in complex genomes. This leads to underestimation of genome size and gene loss, impacting our understanding of genome structure.

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