Digital genotyping and haplotyping with polymerase colonies

May 18, 2004

郭啟沐

Abstract

The most common genetic variations in the human population are single-nucleotide polymorphisms (SNPs). Surprisingly, recent studies found that for some diseases, there is not one single SNP that is responsible for altering gene function, but instead, multiple SNPs interact to alter the function or expression of a protein. These alterations occur only when specific combinations of SNPs are present on the same chromosome, so the focus has shifted from a causative SNP to a causative haplotype. The most common approach for determining the haplotype, or phase, of a set of SNPs is computational inference from unphased data, but the error rate to be between 19 and 48%. Here, the authors present a method to determine digital genotypes and haplotypes using polymerase colony (polony) technology.

From：Mitra, RD, Butty, V, Shendure, J, Williams, BR, Housman, DE, and Church, GM (2003) Proc Natl Acad Sci USA. May 13;100(10):5926-31.

Reference

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