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Genome assembly comparison identifies structural variants in the human genome

Razi Khaja1, Junjun Zhang, Jeffrey R MacDonald

  • 1Program in Genetics and Genomic Biology, The Hospital for Sick Children and Department of Molecular and Medical Genetics, University of Toronto and The Centre for Applied Genomics, MaRS Centre, Toronto, Ontario, M5G 1L7, Canada.

Nature Genetics
|November 23, 2006
PubMed
Summary

Genome assembly comparison effectively identifies diverse DNA variations, including smaller variants previously missed. This approach reveals substantial human genetic diversity, crucial for interpreting sequencing data.

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