Assaying chromosomal inversions by single-molecule haplotyping
作者： Daniel J Turner , Jay Shendure , Greg Porreca , George Church , Peter Green
DOI: 10.1038/NMETH881
关键词:
摘要: Inversions are an important form of structural variation, but they difficult to characterize, as their breakpoints often fall within inverted repeats. We have developed a method called 'haplotype fusion' in which inversion breakpoint is genotyped by performing fusion PCR on single molecules human genomic DNA. Fusing single-copy sequences bracketing generates orientation-specific products, exemplified genotyping assay for the int22 hemophilia A Xq28. Furthermore, we demonstrated that events with embedded long (>100 kb) repeats can be haplotype-fusion followed bead-based single-molecule haplotyping repeat-specific markers breakpoint. illustrate this Yp paracentric sponsored >300-kb-long The generality our methods survey for, and genotype chromosomal inversions should help understanding contribution inherited diseases cancer.
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