a0f7abd772e0e0b47c4a64ffdc43527b39454ccf gperez2 Thu Dec 11 21:27:58 2025 -0800 Updating the data of the gnomAD v4.1 CNV track with the gnomad.v4.1.cnv.all.bed data, refs #36788 diff --git src/hg/makeDb/trackDb/human/hg38/gnomadCNV.html src/hg/makeDb/trackDb/human/hg38/gnomadCNV.html index 8738522aff9..44a994b5efc 100644 --- src/hg/makeDb/trackDb/human/hg38/gnomadCNV.html +++ src/hg/makeDb/trackDb/human/hg38/gnomadCNV.html @@ -2,35 +2,35 @@ <p> The <b>${longLabel}</b> track set shows rare autosomal coding copy number variants (CNVs) with an overall site frequency of less than 1%. These variants were identified from exome sequencing (ES) data of 464,297 individuals. The data can also be explored via the <a href="https://gnomad.broadinstitute.org/" target="_blank">gnomAD browser</a>. <h2>Display Conventions and Configuration</h2> <p> Items are colored by the type of variant: <table class="stdTbl"> <tr> <th>Variant Type</th> <tr> <td style="background-color: rgb(255,0,0)">Deletion (DEL)</td> - <td>20989</td> + <td>31939</td> </tr> <tr> <td style="background-color: rgb(0,0,255)">Duplication (DUP)</td> - <td>25026</td> + <td>36760</td> </tr> </table>.</p> <p><b>Mouseover</b> on an item will display the position, size of variant, genes impacted by variant (>=10% CDS overlap by deletion or >=75% CDS overlap by duplication), and site frequency of non-neuro control samples. Item description pages include a linkout to the gnomAD browser showing additional genetic ancestry group information.</p> <H2>Methods</H2> <h3>Exome CNV Discovery Method: GATK-gCNV</h3> <p> To identify rare coding CNVs from the ES data of 464,297 individuals in gnomAD v4, the GATK-gCNV method was employed, as described in Babadi et al., Nat Genet, 2023.</p> @@ -65,31 +65,31 @@ dataset.</li> <li>This dataset only includes variants that span three or more exons that received sufficient coverage.</li> <li>This dataset is limited to autosomal CNVs for now.</li> </ol> <p> More information can be found at the <a href="https://gnomad.broadinstitute.org/news/2023-11-v4-copy-number-variants/" target="_blank"> gnomAD site</a>.</p> <p> The bed files was obtained from the gnomAD Google Storage bucket:</p> <pre> -https://storage.googleapis.com/gcp-public-data--gnomad/release/4.1/exome_cnv/gnomad.v4.1.cnv.non_neuro_controls.bed +https://storage.googleapis.com/gcp-public-data--gnomad/release/4.1/exome_cnv/gnomad.v4.1.cnv.all.bed </pre> The data was then transformed into a bigBed track. For the full list of commands used to make this track please see the "gnomAD CNVs v4.1" section of the <a href="https://raw.githubusercontent.com/ucscGenomeBrowser/kent/master/src/hg/makeDb/doc/hg38/gnomad.txt" target="_blank">makedoc</a>.</p> <h2>Data Access</h2> <p> The raw data can be explored interactively with the <a href="../hgTables">Table Browser</a>, or the <a href="../hgIntegrator">Data Integrator</a>. For automated access, this track, like all others, is available via our <a href="../goldenPath/help/api.html">API</a>. However, for bulk processing, it is recommended to download the dataset. The genome annotation is stored in a bigBed file that can be downloaded from the