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Missing SNP Genotype Imputation

Authors: Wang, Yining;

Missing SNP Genotype Imputation

Abstract

High-throughput single nucleotide polymorphism (SNP) genotyping technologies conveniently produce large SNP genotype datasets for genome-wide linkage and association studies. Various factors, from array design and hybridization, can give rise to a certain percentage of missing calls, and the problem becomes severe when the target organisms such as cattle do not have a high resolution genomic sequence available. Missing calls in SNP genotype datasets would undermine downstream data analysis. Therefore, effective methodologies for dealing with missing genotypes are in urgent need. In this dissertation, we start with a brief introduction to the concepts in genetics, then present a collection of imputation methods, with focus on machine learning algorithms, to tackle the missing SNP genotype problem. We demonstrate that these imputation approaches can achieve satisfactory accuracies, tested on the real population SNP genotype datasets, and highlight the places where our new methods find useful. We conclude with some possible future directions for the genome-wide SNP genotype imputation problem.

Keywords

Genetics--Technique, Missing observations (Statistics), Nucleotide sequence

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
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