aa61ebc800429515f9ced7e28f669c6042219f43 max Wed Mar 18 09:09:13 2026 -0700 varFreqs supertrack: add GREGoR track, update all HTML docs, move scripts to varFreqs/, refs #36642 Add GREGoR R04 WGS track to varFreqs superTrack. Update Data Access and Methods sections for all 20+ subtrack HTML files with consistent formatting, sequencing methods from source papers, and links to makeDoc and Github scripts. Move all varFreqs conversion scripts into scripts/varFreqs/ subdirectory and update makeDoc paths accordingly. Co-Authored-By: Claude Opus 4.6 <noreply@anthropic.com> diff --git src/hg/makeDb/trackDb/human/mgrb.html src/hg/makeDb/trackDb/human/mgrb.html new file mode 100644 index 00000000000..9830c3165f2 --- /dev/null +++ src/hg/makeDb/trackDb/human/mgrb.html @@ -0,0 +1,45 @@ +<h2>Description</h2> +<p> +The <a href="https://sgc.garvan.org.au/initiatives/mgrb/index.html" target="_blank">Australian +Medical Genome Reference Bank (MGRB)</a> collected whole-genome sequencing data of 4,011 healthy +elderly individuals who lived ≥70 years, to make sure that the dataset is depleted of damaging +genetic variants. Age and sex summary graphs are available from +<a href="https://sgc.garvan.org.au/initiatives/mgrb/index.html" target="_blank">the MGRB website</a>. +</p> + +<h2>Data Access</h2> +<p> +Due to license restrictions, the data for this track cannot be downloaded from the UCSC +Genome Browser. The Table Browser, Data Integrator, and download server are not available +for this track. +</p> +<p> +VCF access can be requested via a form from +<a href="https://sgc.garvan.org.au/terms/mgrb/index.html" target="_blank">Sydney Genomics</a>. +</p> + +<h2>Methods</h2> +<p> +The 4,011 MGRB samples underwent whole-genome sequencing on Illumina HiSeq X instruments at KCCG +under ISO 15189 accreditation, using paired-end TruSeq DNA Nano libraries sequenced one lane per +sample. Alignment of sequence reads to the hg38 reference genome assembly was with bwa 0.7.15-r1140. +Variants were called following the Genome Analysis Toolkit (GATK) best practices procedure using +GATK 4.1.4.0. A sites-only VCF with only passing variants (FILTER=PASS) was made with bcftools 1.20. +</p> +<p> +We received VCF files from m.hobbs@garvan.org.au via a transfer link and imported these VCFs. +We provide documentation that indicates how all source files of the varFreqs track were converted in the <a href="https://github.com/ucscGenomeBrowser/kent/blob/master/src/hg/makeDb/doc/hg38/varFreqs.txt" target=_blank>makeDoc file</a> of the track. +For some tracks, python scripts were necessary and are also available from <a href="https://github.com/ucscGenomeBrowser/kent/blob/master/src/hg/makeDb/scripts/varFreqs" target=_blank>Github</a>. +</p> + +<h2>References</h2> +<p> +Lacaze P, Pinese M, Kaplan W, Stone A, Brion MJ, Woods RL, McNamara M, McNeil JJ, Dinger ME, Thomas +DM. +<a href="https://doi.org/10.1038/s41431-018-0279-z" target="_blank"> +The Medical Genome Reference Bank: a whole-genome data resource of 4000 healthy elderly individuals. +Rationale and cohort design</a>. +<em>Eur J Hum Genet</em>. 2019 Feb;27(2):308-316. +PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/30353151" target="_blank">30353151</a>; PMC: <a +href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336775/" target="_blank">PMC6336775</a> +</p>