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/saudi.html src/hg/makeDb/trackDb/human/saudi.html new file mode 100644 index 00000000000..b35cd9993ba --- /dev/null +++ src/hg/makeDb/trackDb/human/saudi.html @@ -0,0 +1,51 @@ +<h2>Description</h2> +<p> +Variant frequencies from 302 whole genomes at 30x coverage from the +<a href="https://www.vision2030.gov.sa/en/explore/projects/the-saudi-genome-program" +target="_blank">Saudi Genome Program</a>. The genotyping data and imputations from 3,352 +individuals do not seem to be available publicly. +</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>saudi</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 data were downloaded from +<a href="https://figshare.com/articles/dataset/A_list_of_Saudi_Arabian_variants_and_their_allele_frequencies/28059686/1?file=51297884" +target="_blank">Figshare</a> and converted to VCF. +</p> + +<h2>Methods</h2> +<p> +Whole-genome sequencing of 302 Saudi Arabian individuals was performed on the Illumina HiSeq +X Ten platform using TruSeq Nano DNA library preparation at 30x target coverage. Sequencing and +initial bioinformatics processing were carried out by deCODE Genetics (Reykjavík, Iceland). +Reads were aligned to the GRCh38 reference genome using BWA 0.7.10. Per-sample variant calling +was performed with GATK HaplotypeCaller, followed by joint genotyping using CombineGVCFs and +GenotypeGVCFs. Variant quality score recalibration (VQSR) was applied for both SNPs and indels. +The final autosomal callset contains 25.5 million variants across the 302 individuals. +</p> +<p> +The variant data were downloaded from +<a href="https://figshare.com/articles/dataset/A_list_of_Saudi_Arabian_variants_and_their_allele_frequencies/28059686/1?file=51297884" +target="_blank">Figshare</a> and converted to VCF format using a custom script. +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> +Malomane DK, Williams MP, Huber CD, Mangul S, Abedalthagafi M, Chiang CWK. +<a href="https://doi.org/10.1101/2025.01.10.632500" target="_blank"> +Patterns of population structure and genetic variation within the Saudi Arabian population</a>. +<em>bioRxiv</em>. 2025 Jan 13;. +PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/39868174" target="_blank">39868174</a>; PMC: <a +href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11761371/" target="_blank">PMC11761371</a> +</p>