Structural variation in the human genome and its role in disease.

  title={Structural variation in the human genome and its role in disease.},
  author={Paweł Stankiewicz and James R Lupski},
  journal={Annual review of medicine},
During the last quarter of the twentieth century, our knowledge about human genetic variation was limited mainly to the heterochromatin polymorphisms, large enough to be visible in the light microscope, and the single nucleotide polymorphisms (SNPs) identified by traditional PCR-based DNA sequencing. In the past five years, the rapid development and expanded use of microarray technologies, including oligonucleotide array comparative genomic hybridization and SNP genotyping arrays, as well as… CONTINUE READING
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