9923b0d727379c208d267d367c59ca69829a0b94 max Tue Dec 17 04:21:56 2024 -0800 adding spliceImpact super track and splicevardb track under it, refs #34424 diff --git src/hg/makeDb/trackDb/human/spliceImpactSuper.html src/hg/makeDb/trackDb/human/spliceImpactSuper.html new file mode 100644 index 0000000..601d4be --- /dev/null +++ src/hg/makeDb/trackDb/human/spliceImpactSuper.html @@ -0,0 +1,66 @@ +<h2>Description</h2> + +<p> +The "Splicing Impact" container track contains tracks showing the predicted or validated effect of variants +close to splice sites. +</p> + +<h3>SpliceVarDB</h3> +<p>SpliceVarDB is an online database consolidating over 50,000 variants assayed +for their effects on splicing in over 8,000 human genes. The authors evaluated +over 500 published data sources and established a spliceogenicity scale to +standardize, harmonize, and consolidate variant validation data generated by a +range of experimental protocols. The database is available at +<a target=_blank href="https://splicevardb.org">splicevardb.org</a>.</p> + +<h2>Display Conventions and Configuration</h2> + +<h3>SpliceVarDB</h3> +<p>According to the strength of their supporting +evidence, variants were classified as "splice-altering" (∼25%), "not +splice-altering" (∼25%), and "low-frequency splice-altering" (∼50%), which +correspond to weak or indeterminate evidence of spliceogenicity. 55% of the +splice-altering variants in SpliceVarDB are outside the canonical splice sites +(5.6% are deep intronic). The data is shown as lollipop plots that can be clicked, +the details page then shows a link to SpliceVarDb with full details. +</p> + +<h2>Data Access</h2> +<p> +The raw data can be explored interactively with the <a href="../cgi-bin/hgTables">Table Browser</a> +or the <a href="../cgi-bin/hgIntegrator">Data Integrator</a>. The data can be +accessed from scripts through our <a href="https://api.genome.ucsc.edu">API</a>, the track name is +"splicevardb". + +<p> +For automated download and analysis, the genome annotation is stored in a bigBed file that +can be downloaded from +<a href="http://hgdownload.soe.ucsc.edu/gbdb/$db/splicevardb/" target="_blank">our download server</a>. +The file for this track is called <tt>SVADB.bb</tt>. Individual +regions or the whole genome annotation can be obtained using our tool <tt>bigBedToBed</tt> +which can be compiled from the source code or downloaded as a precompiled +binary for your system. Instructions for downloading source code and binaries can be found +<a href="http://hgdownload.soe.ucsc.edu/downloads.html#utilities_downloads">here</a>. +The tool +can also be used to obtain only features within a given range, e.g. +<tt>bigBedToBed http://hgdownload.soe.ucsc.edu/gbdb/hg19/splicevardb/SVADB.bb -chrom=chr21 -start=0 -end=100000000 stdout</tt></p> +</p> + +</p> + +<h2>Methods</h2> +<p>The data was converted by Patricia Sullivan from SpliceVarDb within a few +hours to bigLolly format and the UCSC Browser staff needed nothing else to do but to downloaded the data. </p> + +<h2>Credits</h2> +<p>Thanks to the SpliceVarDB team for converting the data into our data formats.</p> + +<h2>References</h2> +<p> +Sullivan PJ, Quinn JMW, Wu W, Pinese M, Cowley MJ. +<a href="https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(24)00288-X" target="_blank"> + SpliceVarDB: A comprehensive database of experimentally validated human splicing variants</a>. +<em>Am J Hum Genet</em>. 2024 Oct 3;111(10):2164-2175. +PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/39226898" target="_blank">39226898</a>; PMC: <a + href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11480807/" target="_blank">PMC11480807</a> +</p>