Title |
Detection of sharing by descent, long-range phasing and haplotype imputation
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Published in |
Nature Genetics, August 2008
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DOI | 10.1038/ng.216 |
Pubmed ID | |
Authors |
Augustine Kong, Gisli Masson, Michael L Frigge, Arnaldur Gylfason, Pasha Zusmanovich, Gudmar Thorleifsson, Pall I Olason, Andres Ingason, Stacy Steinberg, Thorunn Rafnar, Patrick Sulem, Magali Mouy, Frosti Jonsson, Unnur Thorsteinsdottir, Daniel F Gudbjartsson, Hreinn Stefansson, Kari Stefansson |
Abstract |
Uncertainty about the phase of strings of SNPs creates complications in genetic analysis, although methods have been developed for phasing population-based samples. However, these methods can only phase a small number of SNPs effectively and become unreliable when applied to SNPs spanning many linkage disequilibrium (LD) blocks. Here we show how to phase more than 1,000 SNPs simultaneously for a large fraction of the 35,528 Icelanders genotyped by Illumina chips. Moreover, haplotypes that are identical by descent (IBD) between close and distant relatives, for example, those separated by ten meioses or more, can often be reliably detected. This method is particularly powerful in studies of the inheritance of recurrent mutations and fine-scale recombinations in large sample sets. A further extension of the method allows us to impute long haplotypes for individuals who are not genotyped. |
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Geographical breakdown
Country | Count | As % |
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United States | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 50% |
Scientists | 1 | 50% |
Mendeley readers
Geographical breakdown
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United States | 13 | 3% |
United Kingdom | 8 | 2% |
Germany | 3 | <1% |
Brazil | 3 | <1% |
France | 2 | <1% |
Italy | 2 | <1% |
Australia | 2 | <1% |
Denmark | 2 | <1% |
Canada | 2 | <1% |
Other | 10 | 2% |
Unknown | 429 | 90% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 141 | 30% |
Student > Ph. D. Student | 120 | 25% |
Student > Bachelor | 29 | 6% |
Student > Master | 27 | 6% |
Professor | 27 | 6% |
Other | 78 | 16% |
Unknown | 54 | 11% |
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Biochemistry, Genetics and Molecular Biology | 75 | 16% |
Medicine and Dentistry | 45 | 9% |
Mathematics | 19 | 4% |
Computer Science | 18 | 4% |
Other | 28 | 6% |
Unknown | 66 | 14% |