ArticleNature methods2006
Assaying chromosomal inversions by single-molecule haplotyping.
Article in Nature methods, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR.Genome research · 2020Article
- Opposite Expression Patterns ofFrontiers in psychiatry · 2019Article
- Copy number variation arising from gene conversion on the human Y chromosome.Human genetics · 2018Article
- Discovery of large genomic inversions using long range information.BMC genomics · 2017Article
- Characterizing polymorphic inversions in human genomes by single-cell sequencing.Genome research · 2016Article
- Human inversions and their functional consequences.Briefings in functional genomics · 2015Review
- Haplotype-resolved genome sequencing: experimental methods and applications.Nature reviews. Genetics · 2015Review
- Genome-wide association tests of inversions with application to psoriasis.Human genetics · 2014Article
- Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence.PLoS genetics · 2014Article
- InvFEST, a database integrating information of polymorphic inversions in the human genome.Nucleic acids research · 2014Article
- Determination of haplotypes at structurally complex regions using emulsion haplotype fusion PCR.BMC genomics · 2012Article
- On the structural plasticity of the human genome: chromosomal inversions revisited.Current genomics · 2012Article
- Inversion variants in the human genome: role in disease and genome architecture.Genome medicine · 2010Article
- High-throughput haplotype determination over long distances by haplotype fusion PCR and ligation haplotyping.Nature protocols · 2009Article
- Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping.Nucleic acids research · 2008Article
- The functional impact of structural variation in humans.Trends in genetics : TIG · 2008Review
- The population genetics of structural variation.Nature genetics · 2007Review
- Evidence for large inversion polymorphisms in the human genome from HapMap data.Genome research · 2007Article
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7 authors.
Funding
Abstract
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 on Xq28. Furthermore, we demonstrated that inversion events with breakpoints embedded within long (>100 kb) inverted repeats can be genotyped by haplotype-fusion PCR followed by bead-based single-molecule haplotyping on repeat-specific markers bracketing the inversion breakpoint. We illustrate this method by genotyping a Yp paracentric inversion sponsored by >300-kb-long inverted repeats. The generality of our methods to survey for, and genotype chromosomal inversions should help our understanding of the contribution of inversions to genomic variation, inherited diseases and cancer.
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