Accelerating haplotype-based genome-wide association study using perfect phylogeny and phase-known reference data.

Accelerating haplotype-based genome-wide association study using perfect phylogeny and phase-known reference data.
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DOI:
10.1371/journal.pone.0022097
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发表时间:
2011
期刊:
影响因子:
3.7
通讯作者:
Jin L
Jin L
中科院分区:
综合性期刊3区
文献类型:
--
作者:
He Y;Li C;Amos CI;Xiong M;Ling H;Jin L

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The genome-wide association study (GWAS) has become a routine approach for mapping disease risk loci with the advent of large-scale genotyping technologies. Multi-allelic haplotype markers can provide superior power compared with single-SNP markers in mapping disease loci. However, the application of haplotype-based analysis to GWAS is usually bottlenecked by prohibitive time cost for haplotype inference, also known as phasing. In this study, we developed an efficient approach to haplotype-based analysis in GWAS. By using a reference panel, our method accelerated the phasing process and reduced the potential bias generated by unrealistic assumptions in phasing process. The haplotype-based approach delivers great power and no type I error inflation for association studies. With only a medium-size reference panel, phasing error in our method is comparable to the genotyping error afforded by commercial genotyping solutions.
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