bac95a147f49cd331052e597006e04b3deee40fc max Wed Apr 22 10:43:20 2026 -0700 lrSv/srSv: human-readable SV type filter labels, script cleanups Add human-readable labels to the supertrack-level svType filter on both the lrSv and srSv supertracks using the "CODE|CODE (Long name)" filterValues syntax: DEL -> "DEL (Deletion)", INS -> "INS (Insertion)", etc. Labels keep the short code up front so users can match what hgTracks shows next to each feature. Also sweep in the in-progress converter/as-file cleanups under scripts/lrSv/ and scripts/srSv/ (introduction of lrSvCommon.py helpers, consistent insLen / svLen / AC column naming, tightened field-description text) that had been piling up as an unstaged working tree. refs #36258 diff --git src/hg/makeDb/trackDb/human/cpc1Sv.html src/hg/makeDb/trackDb/human/cpc1Sv.html index 470d401eb9d..167e890b81d 100644 --- src/hg/makeDb/trackDb/human/cpc1Sv.html +++ src/hg/makeDb/trackDb/human/cpc1Sv.html @@ -63,40 +63,66 @@ </ul> <h2>Filters</h2> <p>Available filters:</p> <ul> <li><b>SV type</b> — any combination of INS, DEL, CPX, MIXED.</li> <li><b>SV length</b> — maximum allele-length difference.</li> <li><b>Allele frequency</b> and <b>allele count</b> across the combined 105 samples.</li> </ul> <h2>Methods</h2> <p> -The CPC assemblies were produced from PacBio HiFi long-read sequencing -(mean ~30× coverage) with <a href="https://github.com/chhylp123/hifiasm" target="_blank">hifiasm</a> -in trio or Hi-C-phased mode, then combined with HPRC Phase 1 assemblies and -built into a variation graph with <a href="https://github.com/pangenome/pggb" target="_blank">pggb/Minigraph-Cactus</a>. -Bubbles in the graph were decomposed into variant records with -<a href="https://github.com/vcflib/vcflib" target="_blank">vcfwave</a>, -producing the source VCF used here. For this UCSC track, the decomposed -VCF was parsed, filtered to variants with an allele-length delta of at -least 50 bp, and collapsed by graph snarl ID (see the build documentation -linked below for details).</p> +Gao et al. 2023 generated PacBio HiFi long reads (mean ~30.65x, +Sequel II/IIe platforms) for 58 QC-passed samples representing 36 +minority Chinese ethnic groups, complemented with Illumina short reads +and Oxford Nanopore ultralong reads. Haplotype-phased de novo assemblies +were produced with +<a href="https://github.com/chhylp123/hifiasm" target="_blank">hifiasm</a> +v0.16.1 (116 high-quality haplotype assemblies retained after QC) and +combined with 47 HPRC Phase 1 assemblies into a single variation graph +built on T2T-CHM13v2 with the Minigraph-Cactus pipeline (Minigraph v0.19 +for the SV skeleton, Cactus v2.1.1 base alignment, <tt>hal2vg</tt>). +Graph bubbles were decomposed into variant records with <tt>vcfwave</tt> +and normalized with <tt>bcftools norm -m -any</tt>, yielding the source +VCF (<tt>CPC.HPRC.Phase1.processed.SVs.normed.vcf.gz</tt>). The upstream +Gao et al. release identified 78,072 SVs across the combined 105-sample +graph. For this track we restrict to the 58 CPC samples (columns matching +<tt>HIFI032*</tt> or <tt>RY*</tt>), recompute AC/AN/NS from those columns +only, drop snarls with no CPC carrier (HPRC-specific sites), filter to +alts with ≥50 bp REF/ALT length difference, and collapse by graph snarl +ID. The final track contains 46,092 snarl sites on hs1; the hg38 version +is lifted with the UCSC <tt>hs1ToHg38.over.chain.gz</tt> chain (36,030 +sites, 10,062 did not lift).</p> + +<p> +The source VCF is distributed by the +<a href="https://github.com/Shuhua-Group/Chinese-Pangenome-Consortium-Phase-I" target="_blank"> +Chinese-Pangenome-Consortium-Phase-I GitHub repository</a>.</p> + +<p> +The step-by-step build commands (CPC-only recount, liftOver, snarl +collapse, bigBed build) are recorded in the UCSC makeDoc for this track +container: +<a href="https://github.com/ucscGenomeBrowser/kent/blob/master/src/hg/makeDb/doc/hg38/lrSv.txt" target="_blank"> +doc/hg38/lrSv.txt</a>. The conversion scripts and autoSql schemas live in +<a href="https://github.com/ucscGenomeBrowser/kent/tree/master/src/hg/makeDb/scripts/lrSv" target="_blank"> +makeDb/scripts/lrSv</a>. +</p> <h2>Data Access</h2> <p>The data can be explored interactively with the <a href="../cgi-bin/hgTables">Table Browser</a> or <a href="../cgi-bin/hgIntegrator">Data Integrator</a>, and accessed from scripts via our <a href="https://api.genome.ucsc.edu">API</a> (track=<i>cpc1Sv</i>).</p> <p>For automated download, the bigBed files are at <a href="http://hgdownload.soe.ucsc.edu/gbdb/hs1/lrSv/cpc1.bb" target="_blank"> http://hgdownload.soe.ucsc.edu/gbdb/hs1/lrSv/cpc1.bb</a> (native) and <a href="http://hgdownload.soe.ucsc.edu/gbdb/hg38/lrSv/cpc1.bb" target="_blank"> http://hgdownload.soe.ucsc.edu/gbdb/hg38/lrSv/cpc1.bb</a> (lifted). Use <tt>bigBedToBed</tt> to extract features: e.g.