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<!DOCTYPE html> | ||
<html> | ||
<head> | ||
<!-- Standard Meta --> | ||
<meta charset="utf-8"> | ||
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<!-- Site Properties --> | ||
<title>STRchive</title> | ||
<link rel="stylesheet" href="https://cdnjs.cloudflare.com/ajax/libs/semantic-ui/2.2.7/semantic.min.css"> | ||
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<style type="text/css"> | ||
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display: none; | ||
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min-height: 700px; | ||
padding: 1em 0em; | ||
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margin-right: 1em; | ||
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margin-left: 0.5em; | ||
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margin-top: 3em; | ||
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font-size: 4em; | ||
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font-size: 2em; | ||
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@media only screen and (max-width: 700px) { | ||
.ui.fixed.menu { | ||
display: none !important; | ||
} | ||
.secondary.pointing.menu .item, | ||
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display: none; | ||
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.secondary.pointing.menu .toc.item { | ||
display: block; | ||
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min-height: 350px; | ||
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font-size: 2em; | ||
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</style> | ||
<script src="https://cdnjs.cloudflare.com/ajax/libs/jquery/3.1.1/jquery.min.js"></script> | ||
<script> | ||
$(document) | ||
.ready(function() { | ||
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// fix menu when passed | ||
$('.masthead') | ||
.visibility({ | ||
once: false, | ||
onBottomPassed: function() { | ||
$('.fixed.menu').transition('fade in'); | ||
}, | ||
onBottomPassedReverse: function() { | ||
$('.fixed.menu').transition('fade out'); | ||
} | ||
}) | ||
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// create sidebar and attach to menu open | ||
$('.ui.sidebar') | ||
.sidebar('attach events', '.toc.item') | ||
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}) | ||
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</script> | ||
</head> | ||
<body> | ||
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<!-- Header --> | ||
<div class="pusher"> | ||
<div class="ui inverted vertical center aligned segment"> | ||
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<div class="ui container"> | ||
<div class="ui large secondary inverted pointing menu"> | ||
<a class="toc item"> | ||
<i class="sidebar icon"></i> | ||
</a> | ||
<a class="item" href="index.html">Home</a> | ||
<a class="item" href="about.html">About</a> | ||
<a class="item" href="/database/index.html">STR Database</a> | ||
<a class="item" href="plots.html">Plots</a> | ||
<a class="active item" href="resources.html">Resources</a> | ||
<a class="item" href="contribute.html">Contribute</a> | ||
<div class="right item"> | ||
<a class="ui inverted button" href="index.html">STRchive</a> | ||
<a class="ui icon inverted button" href="https://github.com/hdashnow/STRchive"> | ||
<i class="github icon"></i> | ||
</a> | ||
</div> | ||
</div> | ||
</div> | ||
</div> | ||
</div> | ||
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<!-- Page Contents --> | ||
<!---- [ ] Genotyping methods | ||
- [ ] Differences between TR locus definitions and why | ||
- [ ] Genome-wide TR loci resources | ||
Both versions of the Palladium? TRF default and 7M? | ||
Adotto - may overestimate size. | ||
--> | ||
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<div class="ui vertical stripe segment"> | ||
<div class="ui middle aligned stackable grid container"> | ||
<div class="row"> | ||
<div class="eight wide column"> | ||
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<h3 class="ui header">Computational methods</h3> | ||
<p> | ||
A selection of computational methods that we have either developed or | ||
used in our research. For a more comprehensive review of methods, see | ||
<a href="https://doi.org/10.1038/s41576-024-00692-3"> | ||
Tanudisastro et al. (2024)</a>. | ||
</p> | ||
<p> | ||
Short-read genotyping methods | ||
<li><a href="https://github.com/Illumina/ExpansionHunter">ExpansionHunter</a></li> | ||
<li><a href="https://github.com/gymrek-lab/HipSTR">HipSTR</a></li> | ||
<li><a href="https://github.com/gymreklab/gangstr">gangSTR</a></li> | ||
</p> | ||
<p> | ||
Short-read novel locus detection methods | ||
<li><a href="https://github.com/quinlan-lab/STRling">STRling</a></li> | ||
<li><a href="https://github.com/Illumina/ExpansionHunterDenovo">ExpansionHunter Denovo</a></li> | ||
</p> | ||
<p> | ||
Long-read genotyping methods | ||
<li><a href="https://github.com/PacificBiosciences/trgt">TRGT</a></li> | ||
<li><a href="https://github.com/PacificBiosciences/trgt-denovo">TRGT-denovo</a></li> | ||
</p> | ||
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</div> | ||
<div class="six wide right floated column"> | ||
<h3 class="ui header">Tandem repeat catalogs</h3> | ||
<p> | ||
<li><a href="https://github.com/broadinstitute/str-analysis/tree/main/str_analysis/variant_catalogs">gnomAD disease loci: ExpansionHunter format</a></li> | ||
<li><a href="https://github.com/Illumina/RepeatCatalogs">174,293 polymorphic STRs: ExpansionHunter format</a> | ||
<li><a href="https://github.com/PacificBiosciences/trgt/blob/main/repeats/repeat_catalog.hg38.bed">174,293 polymorphic STRs: TRGT format</a> | ||
</p> | ||
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<h3 class="ui header">Databases</h3> | ||
<p> | ||
<li><a href="https://gnomad.broadinstitute.org/short-tandem-repeats">gnomAD: Tandem Repeats</a></li> | ||
<li><a href="https://stripy.org/">STRipy</a></li> | ||
<li><a href="https://www.ncbi.nlm.nih.gov/books/NBK535148/">GeneReviews: Tandem Repeat Disorders</a></li> | ||
<li><a href="https://omim.org/">OMIM</a> | ||
</p> | ||
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</div> | ||
</div> | ||
<div class="row"> | ||
<!-- <div class="center aligned column"> | ||
<a class="ui huge button">Check Them Out</a> | ||
</div> --> | ||
</div> | ||
</div> | ||
</div> | ||
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<div class="ui vertical stripe segment"> | ||
<div class="ui text container"> | ||
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<h3 class="ui header">Why do repeat locus definitions differ between resources?</h3> | ||
<p> | ||
There are often multiple ways to define a given repeat locus. For example, | ||
defining a locus as a stretch of perfectly repeting motifs tends to result in | ||
a narrower locus than strategies allowing for interruptions. In coding regions the | ||
locus boundary might be chosen to align with the reading frame. | ||
</p> | ||
<p> | ||
There are often multiple "correct" ways to define a given repeat locus, however | ||
careful consideration must be made to the downstream uses of the data. | ||
In particular, genotyping accuracy can be affected by the choice of locus definition. | ||
</p> | ||
<p> | ||
The loci in STRchive were defined to be broader, allowing for interruptions, and | ||
with consideration to the biological context and clinical utility of the locus. | ||
This strategy increases the chance that the locus will overlap with a relevant | ||
variant call when STRchive is used to annotate a VCF file. It is also the preferred | ||
approach to defining loci for improved genotyping accuracy with | ||
<a href="https://github.com/PacificBiosciences/trgt">TRGT</a>. | ||
In contrast, | ||
<a href="https://github.com/Illumina/ExpansionHunter">ExpansionHunter</a> | ||
tends to perform better with narrower loci that | ||
exclude repeat interruptions. For this reason, repeat definitions used in | ||
<a href="https://gnomad.broadinstitute.org/short-tandem-repeats">gnomAD</a> | ||
tend to be narrower than those used in STRchive. | ||
</p> | ||
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</div> | ||
</div> | ||
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</div> | ||
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<!-- Footer --> | ||
<div class="ui inverted vertical footer segment"> | ||
<div class="ui container"> | ||
<div class="ui stackable inverted divided equal height stackable grid"> | ||
<div class="three wide column"> | ||
<a class="item" href="about.html"> | ||
<h4 class="ui inverted header">About</h4> | ||
</a> | ||
<div class="ui inverted link list"> | ||
<a class="item" href="https://github.com/hdashnow/STRchive/issues">Contact Us</a> | ||
</div> | ||
</div> | ||
<div class="three wide column"> | ||
<a class="item" href="contribute.html"> | ||
<h4 class="ui inverted header">Contribute</h4> | ||
</a> | ||
<div class="ui inverted link list"> | ||
<a class="item" href="contribute.html">How To Contribute</a> | ||
</div> | ||
</div> | ||
<div class="ten wide column"> | ||
<h4 class="ui inverted header">Research use only</h4> | ||
<p>The content on and linked from this website | ||
does not constitute and shall not be construed as constituting medical or legal advice of any kind whatsoever, | ||
nor is it a substitute for professional medical advice, diagnosis and treatment. | ||
</p> | ||
<a rel="license" href="http://creativecommons.org/licenses/by/4.0/"> | ||
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</html> |