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Article

Assaying chromosomal inversions by single-molecule haplotyping.

Nature methods - 1 Jun 2006

Turner Daniel J, Shendure Jay, Porreca Greg, Church George, Green Peter, Tyler-Smith Chris, Hurles Matthew E

Abstract excerpt

Inversions are an important form of structural variation, but they are difficult to characterize, as their breakpoints often fall within inverted repeats. We have developed a method called 'haplotype fusion' in which an inversion breakpoint is genotyped by performing fusion PCR on single molecules of human genomic DNA. Fusing single-copy sequences bracketing an inversion breakpoint generates orientation-specific...

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Identifiers

PMID: 16721377
DOI: 10.1038/nmeth881
PMCID: PMC2690135

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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