Large scale reconstruction of haplotypes from genotype data

Critical to the understanding of the genetic basis for complex diseases is the modeling of human variation. Most of this variation can be characterized by single nucleotide polymorphisms (SNPs) which are mutations at a single nucleotide position. To characterize an individual's variation, we must determine an individual's haplotype or which nucleotide base occurs at each position of these common SNPs for each chromosome. In this paper, we present results for a highly accurate method for haplotype resolution from genotype data. Our method leverages a new insight into the underlying structure of haplotypes which shows that SNPs are organized in highly correlated \blocks". The majority of individuals have one of about four common haplotypes in each block. Our method partitions the SNPs into blocks and for each block, we predict the common haplotypes and each individual'shaplotype. We evaluate our method over biological data. Our method predicts the common haplotypes p...

• Type: Conference
• Year: 2003
• Where: RECOMB
• Authors: Eleazar Eskin, Eran Halperin, Richard M. Karp
• Keywords: Common Haplotypes, Computational Biology, Low Error Rate, Methods Needed Hours, RECOMB 2003