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/hrc.html src/hg/makeDb/trackDb/human/hrc.html new file mode 100644 index 00000000000..1d42232fd08 --- /dev/null +++ src/hg/makeDb/trackDb/human/hrc.html @@ -0,0 +1,62 @@ +<h2>Description</h2> +<p> +The <a href="http://www.haplotype-reference-consortium.org/" +target="_blank">Haplotype Reference Consortium (HRC)</a> is a collaboration among several +large sequencing projects to create a reference panel for genotype imputation. +Release 1.1 contains 64,976 haplotypes from 32,488 whole-genome sequenced samples at +low coverage (average 7x), with 40 million variant sites (minimum allele count of 5). +</p> +<p> +The contributing studies include the 1000 Genomes Project, UK10K, and many other cohorts. +Since 1000 Genomes data is already available as a separate track, this track shows only +the frequencies from the non-1000 Genomes samples (~30,000 individuals), resulting in +38.3 million variants after lifting from GRCh37 to GRCh38. +</p> + +<h2>Data Access</h2> +<p> +The 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>. +For programmatic access, our <a href="https://api.genome.ucsc.edu">REST API</a> can be used; the +track name is <em>hrc</em>. +For bulk download, the VCF file can be obtained from +<a href="http://hgdownload.soe.ucsc.edu/gbdb/$db/varFreqs/" target="_blank">our download server</a>. +</p> +<p> +The original site list file can also be downloaded from the +<a href="http://www.haplotype-reference-consortium.org/site" target="_blank">HRC website</a>. +Our Github repo contains a +<a href="https://github.com/ucscGenomeBrowser/kent/tree/master/src/hg/makeDb/scripts/hrcToVcf.py" +target="_blank">script</a> that converts the tab-separated file to VCF and lifts it to hg38. +</p> + +<h2>Methods</h2> +<p> +The HRC r1.1 site list was downloaded from the +<a href="http://www.haplotype-reference-consortium.org/site" target="_blank">HRC website</a> +as a tab-separated file on GRCh37, converted to VCF and lifted to GRCh38 with UCSC liftOver. +Only frequencies from the non-1000 Genomes samples (~30,000 of the 32,488 total) are included, +since 1000 Genomes data is available separately. Of 40.4M input variants, 8,052 were unmapped +by liftOver and 2.1M were present only in 1000 Genomes samples and were dropped, leaving +38.3M variants. +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>Credits</h2> +<p> +Thanks to the Haplotype Reference Consortium and all contributing studies for making this +reference panel publicly available. +</p> + +<h2>References</h2> +<p> +McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HM, Fuchsberger C, +Danecek P, Sharp K <em>et al</em>. +<a href="https://doi.org/10.1038/ng.3643" target="_blank"> +A reference panel of 64,976 haplotypes for genotype imputation</a>. +<em>Nat Genet</em>. 2016 Oct;48(10):1279-83. +PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/27548312" target="_blank">27548312</a>; PMC: <a +href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388176/" target="_blank">PMC5388176</a> +</p>