High-resolution human genome structure by single-molecule analysis

Proc Natl Acad Sci U S A. 2010 Jun 15;107(24):10848-53. doi: 10.1073/pnas.0914638107. Epub 2010 Jun 1.

Abstract

Variation in genome structure is an important source of human genetic polymorphism: It affects a large proportion of the genome and has a variety of phenotypic consequences relevant to health and disease. In spite of this, human genome structure variation is incompletely characterized due to a lack of approaches for discovering a broad range of structural variants in a global, comprehensive fashion. We addressed this gap with Optical Mapping, a high-throughput, high-resolution single-molecule system for studying genome structure. We used Optical Mapping to create genome-wide restriction maps of a complete hydatidiform mole and three lymphoblast-derived cell lines, and we validated the approach by demonstrating a strong concordance with existing methods. We also describe thousands of new variants with sizes ranging from kb to Mb.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Validation Study

MeSH terms

  • Algorithms
  • Cell Line
  • Cell Line, Tumor
  • Female
  • Genetic Variation
  • Genome, Human*
  • Genome-Wide Association Study
  • Humans
  • Hydatidiform Mole / genetics
  • Lymphocytes / metabolism
  • Optical Restriction Mapping / methods*
  • Optical Restriction Mapping / statistics & numerical data
  • Pregnancy
  • Uterine Neoplasms / genetics