<mods:mods xmlns:mods="http://www.loc.gov/mods/v3" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" ID="etd1285" xsi:schemaLocation="http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd">
    <mods:titleInfo>
        <mods:title>Bayesian statistical inference of non-allelic homologous recombination in the human genome using high-throughput sequencing data</mods:title>
    </mods:titleInfo><mods:name type="personal">
        <mods:namePart>Parks, Matthew </mods:namePart>
    <mods:role>
        <mods:roleTerm type="text">creator</mods:roleTerm>
    </mods:role>
    </mods:name>
<mods:originInfo>
    <mods:copyrightDate>2014</mods:copyrightDate>
</mods:originInfo>
<mods:physicalDescription>
        <mods:extent>11, 139 p.</mods:extent>
        <mods:digitalOrigin>born digital</mods:digitalOrigin>
</mods:physicalDescription>
<mods:note>Thesis (Ph.D. -- Brown University (2014)</mods:note>
<mods:name type="personal">
<mods:namePart>Lawrence, Charles</mods:namePart>
<mods:role>
<mods:roleTerm type="text">Director</mods:roleTerm>
</mods:role>
</mods:name>

<mods:name type="personal">
<mods:namePart>Thompson, William</mods:namePart>
<mods:role>
<mods:roleTerm type="text">Reader</mods:roleTerm>
</mods:role>
</mods:name>

<mods:name type="personal">
<mods:namePart>Raphael, Benjamin</mods:namePart>
<mods:role>
<mods:roleTerm type="text">Reader</mods:roleTerm>
</mods:role>
</mods:name>
<mods:name type="corporate">
        <mods:namePart>Brown University. Applied Mathematics</mods:namePart>
        <mods:role>
            <mods:roleTerm type="text">sponsor</mods:roleTerm>
        </mods:role>
        </mods:name>
    <mods:genre authority="aat">theses</mods:genre>
    <mods:abstract>    Non-allelic homologous recombination (NAHR) plays a major role in genome rearrangement and is implicated in numerous genetic disorders.  But detection of NAHR poses a serious technical challenge because its breakpoints occur in nearly identical regions of highly homologous repeats.  While a few structural variation algorithms identify rearrangements in repeat regions, reliable detection of NAHR remains out of reach.  We present a probabilistic model of NAHR and demonstrate its ability to find previously-undetected NAHR rearrangements from low coverage sequencing data.  We identify a reliable subset of calls and discuss their significance: segregation of NAHR in different populations, effects on highly studied genes such as GBA and CYP2E1, and associated features of NAHR.</mods:abstract>

    <mods:subject>
        <mods:topic>bayesian</mods:topic>
    </mods:subject>

    <mods:subject>
        <mods:topic>bayesian statistics</mods:topic>
    </mods:subject>

    <mods:subject>
        <mods:topic>sequencing</mods:topic>
    </mods:subject>

    <mods:subject>
        <mods:topic>NAHR</mods:topic>
    </mods:subject>

    <mods:subject>
        <mods:topic>genome rearrangement</mods:topic>
    </mods:subject>

    <mods:subject>
        <mods:topic>structural variation</mods:topic>
    </mods:subject>

    <mods:subject xmlns:xlink="http://www.w3.org/1999/xlink" authority="FAST" authorityURI="http://id.worldcat.org/fast" valueURI="http://id.worldcat.org/fast/829019"><mods:topic>Bayesian statistical decision theory</mods:topic></mods:subject><mods:subject xmlns:xlink="http://www.w3.org/1999/xlink" authority="FAST" authorityURI="http://id.worldcat.org/fast" valueURI="http://id.worldcat.org/fast/1423727"><mods:topic>Statistics</mods:topic></mods:subject><mods:recordInfo>
        <mods:recordContentSource authority="marcorg">RPB</mods:recordContentSource>
        <mods:recordCreationDate encoding="iso8601">20141006</mods:recordCreationDate>        
    </mods:recordInfo>
<mods:language xmlns:xlink="http://www.w3.org/1999/xlink"><mods:languageTerm type="code" authority="iso639-2b">eng</mods:languageTerm><mods:languageTerm type="text">English</mods:languageTerm></mods:language><mods:identifier xmlns:xlink="http://www.w3.org/1999/xlink" type="doi">10.7301/Z04J0CGN</mods:identifier><mods:accessCondition xmlns:xlink="http://www.w3.org/1999/xlink" type="rights statement" xlink:href="http://rightsstatements.org/vocab/InC/1.0/">In Copyright</mods:accessCondition><mods:accessCondition type="restriction on access">Collection is open for research.</mods:accessCondition><mods:typeOfResource xmlns:xlink="http://www.w3.org/1999/xlink" authority="primo">dissertations</mods:typeOfResource></mods:mods>