Title: Family trio phasing and missing data recovery

Authors: Dumitru Brinza,, Jingwu He, Weidong Mao, Alexander Zelikovsky

Addresses: Department of Computer Science, Georgia State University, 34 Peachtree Str., suite 1450, Atlanta GA 30303, USA. ' Department of Computer Science, Georgia State University, 34 Peachtree Str., suite 1450, Atlanta GA 30303, USA. ' Department of Computer Science, Georgia State University, 34 Peachtree Str., suite 1450, Atlanta GA 30303, USA. ' Department of Computer Science, Georgia State University, 34 Peachtree Str., suite 1450, Atlanta GA 30303, USA

Abstract: Although there exist many phasing methods for unrelated adults or pedigrees, phasing and missing data recovery for data representing family trios is lagging behind. This paper is an attempt to fill this gap by considering the following problem. Given a set of genotypes partitioned into family trios, find for each trio a quartet of parent/offspring haplotypes explaining each trio without recombinations and recovering the SNP values missed in given genotype data. Our contributions include: formulating the pure-parsimony trio phasing without recombinations and the trio missing data recovery problems; proposing new greedy and integer linear programming based solution methods; extensive experimental validation of proposed methods showing advantage over the previously known methods.

Keywords: haplotypes; genotypes; SNP; family trio data; phasing; bioinformatics; missing data recovery; genotype data; family trios.

DOI: 10.1504/IJBRA.2005.007580

International Journal of Bioinformatics Research and Applications, 2005 Vol.1 No.2, pp.221 - 229

Published online: 06 Aug 2005 *

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