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Assigning significance to genetics variants is often a challenge, and this is particularly problematic for model organisms like macaques,
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which have few sources of genomic annotations, relative to human or mouse.
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<li><ahref="http://database.liulab.science/dbNSFP#intro">dbNSFP: Functional Predictions and Annotations for Human Non-synonymous and Splice Site SNVs</a></li>
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<li><ahref="https://pcingola.github.io/SnpEff/se_introduction/">SnpEff: variant annotation and effect prediction tool</a></li>
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<li><ahref="https://github.com/bimberlabinternal/VariantAnnotation/tree/master">VariantAnnotation: a custom Funcotator-compatible set of annotation sources</a></li>
We have released a draft dataset with structural variants generated from PacBio sequencing of 44 Rhesus macaques. These data complement the short variant catalog by detecting categories of variants not readily accomplished with short read Illumina data.
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<br>
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<ulstyle="padding-top: 10px;">
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<li>Use the <aclass="mgap-link" href="<%=contextPath%><%=containerPath%>/mGap-genomeBrowser.view?activeTracks=mGAP Structural Variants 1.0&location=11:6,936,982..7,002,783">Genome Browser</a> to view and search structural variant data</li>
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<li>Use the <aclass="mgap-link" href="<%=contextPath%><%=containerPath%>/mGap-genomeBrowser.view?nhpSpecies=Rhesus macaque&activeTracks=mGAP Structural Variants 1.0&location=11:6,936,982..7,002,783">Genome Browser</a> to view and search structural variant data</li>
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</ul>
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<h4><spanstyle="text-decoration: underline;">NHP Models of Human Disease:</span><imgstyle="vertical-align: sub" width="40px" src="<%=contextPath%>/mgap/images/phenotypes.png" alt="Phenotypes"></h4>
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<h4>Release 3.0:</h4>
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<ul>
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<li>This release involves a major change in the processing of variants. All prior releases omitted variants in complex or repetitive regions. We originally excluded these because genotypes can be less accurate; however, we made this change because some repetitive regions overlap coding regions and can contain valuable information. This also results in a significant increase in the total number of variants.</a></li>
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<li>This is the first release to include a second species. The dataset now contains both Rhesus macaques and Japanese macaques (which are separated into a separate track).</li>
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<li>This is the first release to include a second species. The dataset now contains both Rhesus macaques and Japanese macaques (which are separated into a separate VCF / browser track).</li>
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