Ontology highlight
ABSTRACT:
SUBMITTER: Turner DJ
PROVIDER: S-EPMC2690135 | biostudies-literature | 2006 Jun
REPOSITORIES: biostudies-literature
Turner Daniel J DJ Shendure Jay J Porreca Greg G Church George G Green Peter P Tyler-Smith Chris C Hurles Matthew E ME
Nature methods 20060601 6
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 PCR products, exemplified by a genotyping assay for the int22 hemophilia A inversion ...[more]