3e1960b35a07377b46bd83b8fd04387f182c6bd6 abenetpa Fri May 15 10:52:51 2020 -0700 added three description pages for dbVar tracks refs #25424 diff --git src/hg/makeDb/trackDb/human/dbVarCurated.html src/hg/makeDb/trackDb/human/dbVarCurated.html new file mode 100644 index 0000000..232f461 --- /dev/null +++ src/hg/makeDb/trackDb/human/dbVarCurated.html @@ -0,0 +1,85 @@ +<h2>Description</h2> +<p> +The tracks listed here contain data from the +<a target=_blank href="https://www.ncbi.nlm.nih.gov/dbvar/content/var_summary/#nstd186"> +nstd186 (NCBI Curated Common Structural Variants)</a> study. This is a collection of structural +variants (SV) originally submitted to dbVar which are part of a study with at least 100 samples and +have an allele frequency of >=0.01 in at least one population. The complete dataset is imported +from these common-population studies: +</p> + +<p> +<b>gnomAD Structural Variants</b> +<a target=_blank href="https://www.ncbi.nlm.nih.gov/dbvar/studies/nstd166/">(nstd166)</a>: + Catalog of SVs detected from the sequencing of the complete genome of 10,847 unrelated +individuals from the GnomAD v2.1 release.</p> +<p> +<b>1000 Genomes Consortium Phase 3 Integrated SV</b> +<a target=_blank href="https://www.ncbi.nlm.nih.gov/dbvar/studies/estd219/">(estd219)</a>: + Structural variants of the 1000 Genomes project Phase 3 as reported in a separate article +specifically dedicated to the analysis of SVs. Many of these data are identical to those reported +in the <a target=_blank +href="https://www.ncbi.nlm.nih.gov/dbvar/studies/estd214/">estd214</a> study.</p> +<p> +<b>DECIPHER Common CNVs</b> +<a href="https://www.ncbi.nlm.nih.gov/dbvar/studies/nstd183/">(nstd183)</a>: +Consensus set of common population CNVs selected from high-resolution controls sets where frequency +information is available. +</p> + +<p> +There are two tracks in this collection: +<ul> +<li><a href="/cgi-bin/hgTrackUi?hgsid=395092309_WCeXo2V0Ug6yJ1KducDbjPkMSade&c=chr1&g=dbVar_common"> +<b>NCBI dbVar Curated Common Structural Variants (dbVar Common SV)</b></a>: Shows copy number +variants calls (variants >=50 nucleotides) from the <a target=_blank +href="https://www.ncbi.nlm.nih.gov/dbvar/studies/nstd186/">nstd186</a> study.</li> +<li><a href="/cgi-bin/hgTrackUi?hgsid=395092309_WCeXo2V0Ug6yJ1KducDbjPkMSade&c=chr1&g=dbVar_conflict"> +<b>NCBI dbVar Curated Conflict Variants (dbVar Conflict SV)</b></a>: Shows copy number +variants from <a target=_blank href="https://www.ncbi.nlm.nih.gov/dbvar/studies/nstd186/">nstd186</a> +(NCBI Curated Common Structural Variants) that overlap with +<a target=_blank href="https://www.ncbi.nlm.nih.gov/dbvar/studies/nstd102/">nstd102</a> (Clinical +Structural Variants).</li> +</ul> +</p> + +<h2>Display Conventions</h2> +<p> +These tracks are multi-view composite tracks that contain multiple data types (views). Each view +within a track has separate display controls, as described +<a href="https://genome.ucsc.edu/goldenPath/help/multiView.html">here</a>. Some dbVar tracks +contain multiple subtracks, corresponding to subsets of data. If a track contains many subtracks, +only some subtracks will be displayed by default. The user can select which subtracks are displayed +via the display controls on the track details page. +</p> + +<h2>Data Acces</h2> +<p> +The raw data can be explored interactively with the +<a href="https://genome.ucsc.edu/cgi-bin/hgTables">Table Browser</a>, or the +<a href="https://genome.ucsc.edu/cgi-bin/hgIntegrator">Data Integrator</a>. For automated analysis, +the data may be queried from our +<a href="https://genome.ucsc.edu/goldenPath/help/api.html">REST API</a>. The data can also be found +directly from the dbVar nstd186 <a target=_blank +href="https://www.ncbi.nlm.nih.gov/dbvar/content/common_summary/#data_access">data access</a>. +For questions about dbVar track data, please contact <em>dbvar@ncbi.nlm.nih.gov</em>. +</p> + +<h2>Credits</h2> +<p> +Thanks to the dbVAR team at NCBI, especially Timothy Hefferon for technical coordination and +consultation, and to Christopher Lee, Anna Benet-Pages, and Maximilian Haeussler of the Genom +Browser team for engineering the track display.</p> + +<h2>References</h2> + +<p> +Lappalainen I, Lopez J, Skipper L, Hefferon T, Spalding JD, Garner J, Chen C, Maguire M, Corbett M, +Zhou G <em>et al</em>. +<a href="https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/gks1213" target="_blank"> +DbVar and DGVa: public archives for genomic structural variation</a>. +<em>Nucleic Acids Res</em>. 2013 Jan;41(Database issue):D936-41. +PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/23193291" target="_blank">23193291</a>; PMC: <a +href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3531204/" target="_blank">PMC3531204</a> +</p> +