Haplotype Reconstruction Error as a Classical Misclassification Problem: Introducing Sensitivity and Specificity as Error Measures

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Haplotype Reconstruction Error as a Classical Misclassification Problem: Introducing Sensitivity and Specificity as Error Measures

BACKGROUND Statistically reconstructing haplotypes from single nucleotide polymorphism (SNP) genotypes, can lead to falsely classified haplotypes. This can be an issue when interpreting haplotype association results or when selecting subjects with certain haplotypes for subsequent functional studies. It was our aim to quantify haplotype reconstruction error and to provide tools for it. METHOD...

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Construction of two haplotypes from a set of Single Nucleotide Polymorphism (SNP) fragments is referred to as haplotype reconstruction problem. One of the most important computational models for this problem is Minimum Error Correction (MEC). Since MEC is an NP-hard problem, here we propose a heuristic algorithm for haplotype reconstruction problem. The algorithm is Particle Swarm Optimization ...

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Haplotype reconstruction from SNP fragments by minimum error correction

MOTIVATION Haplotype reconstruction based on aligned single nucleotide polymorphism (SNP) fragments is to infer a pair of haplotypes from localized polymorphism data gathered through short genome fragment assembly. An important computational model of this problem is the minimum error correction (MEC) model, which has been mentioned in several literatures. The model retrieves a pair of haplotype...

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ژورنال

عنوان ژورنال: PLoS ONE

سال: 2008

ISSN: 1932-6203

DOI: 10.1371/journal.pone.0001853