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Short Specialist Review Algorithmic improvements

Summary: Short Specialist Review
Algorithmic improvements
in gene mapping
Gonc¸alo R. Abecasis and Yu Zhao
University of Michigan, Ann Arbor, MI, USA
1. Introduction
The analysis of human gene mapping data has generated many challenging
computational problems. The challenges arise because in most gene-mapping
studies the DNA sequence of each individual is only measured imperfectly. For
some individuals, these measurements are the result of genotyping assays at
specific loci or chromosomal regions. For other individuals, there might be even
greater uncertainty: their DNA sequence might only be measured indirectly through
information obtained on the genotypes of their relatives. In either situation, there
can be a very large number of DNA sequences compatible with observed data, and
identifying the most likely DNA sequence configuration(s) might require many
individuals to be considered jointly.
2. Analysis of human pedigrees
To survey algorithmic challenges in gene mapping, we will focus on the analysis of
pedigree data. These data are often used in linkage studies of discrete or quantitative
traits, in the construction of genetic linkage maps (see Article 54, Sex-specific


Source: Abecasis, Goncalo - Department of Biostatistics, University of Michigan


Collections: Biology and Medicine; Mathematics