Powered by OpenAIRE graph
Found an issue? Give us feedback
addClaim

Genome Graphs.

Authors: Medvedev, Paul;
Abstract

Whole-genome shotgun sequencing is an experimental technique used for obtaining information about a genome’s sequence, whereby it is broken up into many short (possibly overlapping) segments whose sequence is then determined. A long-standing use of sequencing is in genome assembly – the problem of determining the sequence of an unknown genome, which plays a central role for the sequencing of novel species. However, even within the same species, the genomes of two individuals differ, and though these variations are relatively small, they account for the observed variation in phenotypes. A large portion of these are copy number variants (CNVs), or genomic segments which appear a different number of times in different individuals. The unifying theme of this thesis is the use of genome graphs for both CNV detection and genome assembly problems. Genome graphs, which have already been successfully used for alignment and assembly, capture the structure of a genome even when its sequence is not fully known, as with the case of sequencing data. In this thesis, we extend their uses in several ways, culminating in a method for CNV detection that is based on a novel genome graph model. First, we demonstrate how the double-stranded nature of DNA can be efficiently incorporated into genome graphs by using the technique of bidirected network flow. Furthermore, we show how genome graphs can be efficiently used for finding solutions that maximize the likelihood of the data, as opposed to the usual maximum parsimony approach. Finally, we show how genome graphs can be useful for CNV detection through a novel construction called the donor graph. These extensions are combined into a method for detecting CNVs, which we use on a Yoruban human individual, showing a high degree of accuracy and improvement over previous methods. ; PhD

Country
Canada
Related Organizations
Keywords

bioinforamatics, 0984, 004

  • BIP!
    Impact byBIP!
    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).
    0
    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.
    Average
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Average
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Average
Powered by OpenAIRE graph
Found an issue? Give us feedback
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
Average
Average
Upload OA version
Are you the author of this publication? Upload your Open Access version to Zenodo!
It’s fast and easy, just two clicks!