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Article

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

Annual review of medicine - 1 Jan 2010

Stankiewicz Paweł, Lupski James R

Abstract excerpt

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...

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PMID: 20059347
DOI: 10.1146/annurev-med-100708-204735

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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