2596c3765d9f8fb8ffe464d7d11ba843374f672a lrnassar Wed Feb 12 12:49:11 2025 -0800 MITOMAP track is now ready for QA, refs #24849 diff --git src/hg/makeDb/trackDb/human/mitoMap.html src/hg/makeDb/trackDb/human/mitoMap.html new file mode 100644 index 00000000000..189b8546c23 --- /dev/null +++ src/hg/makeDb/trackDb/human/mitoMap.html @@ -0,0 +1,95 @@ +<h2>Description</h2> + +<p> +This track shows annotations from <a target="_blank" +href="https://www.mitomap.org/foswiki/bin/view/MITOMAP/WebHome">MITOMAP</a>. +MITOMAP is a database of human mitochondrial DNA (mtDNA) information containing +a compilation of mtDNA variation. It allows users to look up human mitochondrial gene +loci, search for public mitochondrial sequences, and browse or search for reported +general population nucleotide variants as well as those reported in clinical disease. +</p> + +<h2>Display Conventions and Configuration</h2> +<p> +These data are separated into two tracks:<br><br> +<b>MITOMAP Control and Coding Variants</b><br><br> +This data track contains variants, including mini insertions and deletions, in the +complete mtDNA. The item colors correspond to the variant type: +<b><font color="#53AF01">control region</font></b> vs. +<b><font color="#3E89D3">coding region</font></b>.</p> +<p> +<b>MITOMAP Disease Mutations</b><br><br> +This data track contains disease-annotated mutations (variants) in the +complete mtDNA. The item colors correspond to the variant type: +<b><font color="##015587">coding/control</font></b> vs. +<b><font color="#9933FF">rRNA/tRNA</font></b>.</p> +<p> +For both tracks, item names correspond to the +variant nucleotide change, and mousing over features displays all available +metadata for MITOMAP. Linkouts to the specific MITOMAP datasets are available from +the item description pages, however, you must input the variant on MITOMAP.</p> + +<h2>Data Access</h2> +<p> +All source data can be found on the <a target="_blank" href="https://www.mitomap.org/foswiki/bin/view/MITOMAP/WebHome"> +MITOMAP site</a>. +<p> +The MITOMAP data on the UCSC Genome Browser can be explored interactively with the +<a href="../cgi-bin/hgTables">Table Browser</a> or the +<a href="../cgi-bin/hgIntegrator">Data Integrator</a>. +For automated download and analysis, the genome annotation is stored at UCSC in bigBed +files that can be downloaded from the respective file, e.g. +<a href="http://hgdownload.soe.ucsc.edu/gbdb/$db/bbi/mitoMapVars.bb" +target="_blank">MITOMAP Variants</a>, on our download server. +The data may also be explored interactively using our +<a href="../goldenPath/help/api.html" target="_blank">REST API</a>.</p> + +<p> +The file for this track may also be locally explored using our tools <tt>bigBedToBed</tt> +which can be compiled from the source code or downloaded as a precompiled +binary for your system. Instructions for downloading source code and binaries can be found +<a href="http://hgdownload.soe.ucsc.edu/downloads.html#utilities_downloads">here</a>. +The tools can also be used to obtain features confined to a given range, e.g., +<br><br> +<tt>bigBedToBed -chrom=chr1 -start=100000 -end=100500 http://hgdownload.soe.ucsc.edu/gbdb/$db/bbi/mitoMapVars.bb stdout</tt></p> + +<h2>Methods</h2> +<p> +The data were downloaded from the <a target="_blank" href="https://www.mitomap.org/foswiki/bin/view/MITOMAP/WebHome"> +MITOMAP resource</a>. For the <b>Control and Coding Variants track</b>, the following +datasets were combined: +<ul> +<li><a target="_blank" href="https://www.mitomap.org/foswiki/bin/view/MITOMAP/VariantsControl"> +Control Region Variants (16024-576)</a></li> +<li><a target="_blank" href="https://www.mitomap.org/foswiki/bin/view/MITOMAP/VariantsCoding"> +Coding & RNA Variants (577-16023, MTTF-MTTP)</a></li></ul> +And for the <b>Disease Mutations track</b>, the following two were combined: +<ul> +<li><a target="_blank" href="https://www.mitomap.org/foswiki/bin/view/MITOMAP/MutationsRNA"> +rRNA/tRNA Mutations, all</a></li> +<li><a target="_blank" href="https://www.mitomap.org/foswiki/bin/view/MITOMAP/MutationsCodingControl"> +Coding & Non-Coding/Control Region Mutations, all</a></li></ul></p> +<p> +<p> +For all the details on how the data were processed and combined, see +the <a target="_blank" +href="https://github.com/ucscGenomeBrowser/kent/blob/master/src/hg/makeDb/doc/hg38/mitoMap.txt"> +MITOMAP makedoc</a>. +</p> + +<h2>Credits</h2> +<p> +Thanks to the <a target="_blank" href="https://www.mitomap.org/foswiki/bin/view/MITOMAP/WebHome">MITOMAP resource</a> +for making these annotations available.</p> + +<h2>References</h2> +<p> +MITOMAP: A Human Mitochondrial Genome Database. http://www.mitomap.org, 2023 +</p> +<p> +Lott, M.T., Leipzig, J.N., Derbeneva, O., Xie, H.M., Chalkia, D., Sarmady, M., Procaccio, V., +and Wallace, D.C. 2013. mtDNA variation and analysis using MITOMAP and MITOMASTER. Current +Protocols in Bioinformatics 1(123):1.23.1-26. PMID: <a target="_blank" +href="http://www.ncbi.nlm.nih.gov/pubmed?term=25489354">25489354</a> URL: <a +target="_blank" href="http://www.mitomap.org/">http://www.mitomap.org</a> +</p>