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Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping
Ligation Haplotyping is a robust, novel method for experimental determination of haplotypes over long distances, which can be applied to assaying both sequence and structural variation. The simplicity and efficacy of the method for genotyping large chromosomal rearrangements and haplotyping SNPs ove...
Autores principales: | , , |
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Formato: | Texto |
Lenguaje: | English |
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Oxford University Press
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2490767/ https://www.ncbi.nlm.nih.gov/pubmed/18562465 http://dx.doi.org/10.1093/nar/gkn373 |
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author | Turner, Daniel J. Tyler-Smith, Chris Hurles, Matthew E. |
author_facet | Turner, Daniel J. Tyler-Smith, Chris Hurles, Matthew E. |
author_sort | Turner, Daniel J. |
collection | PubMed |
description | Ligation Haplotyping is a robust, novel method for experimental determination of haplotypes over long distances, which can be applied to assaying both sequence and structural variation. The simplicity and efficacy of the method for genotyping large chromosomal rearrangements and haplotyping SNPs over long distances make it a valuable and powerful addition to the methodological repertoire, which will be beneficial to studies of population genetics and evolution, disease association and inheritance, and genomic variation. We illustrate the versatility of the method both by genotyping a Yp paracentric inversion, found in ∼60% of Northwest European males, that strongly influences the germline rate of infertility-causing XY translocations and by haplotyping two autosomal SNPs that lie 16.4 kb apart on chromosome 7, and which influence an individual's susceptibility to systemic lupus erythematosus. |
format | Text |
id | pubmed-2490767 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2008 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-24907672008-08-01 Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping Turner, Daniel J. Tyler-Smith, Chris Hurles, Matthew E. Nucleic Acids Res Methods Online Ligation Haplotyping is a robust, novel method for experimental determination of haplotypes over long distances, which can be applied to assaying both sequence and structural variation. The simplicity and efficacy of the method for genotyping large chromosomal rearrangements and haplotyping SNPs over long distances make it a valuable and powerful addition to the methodological repertoire, which will be beneficial to studies of population genetics and evolution, disease association and inheritance, and genomic variation. We illustrate the versatility of the method both by genotyping a Yp paracentric inversion, found in ∼60% of Northwest European males, that strongly influences the germline rate of infertility-causing XY translocations and by haplotyping two autosomal SNPs that lie 16.4 kb apart on chromosome 7, and which influence an individual's susceptibility to systemic lupus erythematosus. Oxford University Press 2008-08 2008-06-18 /pmc/articles/PMC2490767/ /pubmed/18562465 http://dx.doi.org/10.1093/nar/gkn373 Text en © 2008 The Author(s) http://creativecommons.org/licenses/by-nc/2.0/uk/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Methods Online Turner, Daniel J. Tyler-Smith, Chris Hurles, Matthew E. Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping |
title | Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping |
title_full | Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping |
title_fullStr | Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping |
title_full_unstemmed | Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping |
title_short | Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping |
title_sort | long-range, high-throughput haplotype determination via haplotype-fusion pcr and ligation haplotyping |
topic | Methods Online |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2490767/ https://www.ncbi.nlm.nih.gov/pubmed/18562465 http://dx.doi.org/10.1093/nar/gkn373 |
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