9a11061ca6b40fe16bdfd09b1af53192f6c7c85b max Tue Apr 21 08:13:02 2026 -0700 lrSv: add HTML doc pages and conversion scripts for recent subtracks, + hs1 HGSVC3 Subtrack stanzas for these SV callsets landed in earlier commits but the conversion scripts and per-track HTML description pages were never added; trackDb therefore had no doc to serve. This commit catches up. Docs (new): - colorsDbSv.html CoLoRSdb 1,427-sample long-read SVs - gustafsonSv.html 1KG ONT 100 (Gustafson 2024, PMID 39358015) - hgsvc2Sv.html HGSVC2 (Ebert 2021, PMID 33632895) - hprc2Sv.html HPRC release-2 pangenome SVs (no PMID yet; see humanpangenome.org/hprc-data-release-2/) - onekg3202Sr.html 1KG 3202 Illumina SHORT-READ GATK-SV (Byrska-Bishop 2022, PMID 36055201) Scripts (new): - lrSvGustafson.as / lrSvGustafsonVcfToBed.py - lrSvHgsvc2.as / lrSvHgsvc2TsvToBed.py (merges insdel + inv tables) - lrSvHprc2.as / lrSvHprc2VcfToBed.py (streams wave-decomposed VCF, explodes multi-allelic rows, filters to SV-sized or INV) - lrSv1kg3202Sr.as / lrSv1kg3202SrVcfToBed.py HGSVC3 also on hs1: - hgsvc3Sv.html: note that the hs1 build is native (not lifted): HGSVC3 aligned all assemblies to both GRCh38 and T2T-CHM13 and released separate annotation tables per reference. Added the T2T-CHM13 source URL to the Methods section and the hs1 hgsvc3.bb download link to Data Access. - doc/hs1/lrSv.txt (new): hs1-specific wget + build steps; refers back to doc/hg38/lrSv.txt for the full process. refs #36258 Co-Authored-By: Claude Opus 4.7 (1M context) diff --git src/hg/makeDb/trackDb/human/gustafsonSv.html src/hg/makeDb/trackDb/human/gustafsonSv.html new file mode 100644 index 00000000000..65923b24b32 --- /dev/null +++ src/hg/makeDb/trackDb/human/gustafsonSv.html @@ -0,0 +1,96 @@ +

Description

+

+This track shows structural variants (SVs) from Oxford Nanopore long-read +whole-genome sequencing of 100 individuals in the 1000 Genomes Project, +as released by the 1000 Genomes Project ONT Sequencing Consortium and +described in Gustafson et al. 2024. The cohort spans all five 1000 +Genomes superpopulations and 19 subpopulations. Samples were sequenced +with ONT R9.4.1 pores at ~37x coverage with median read N50 of ~54 kb. +

+

+The track contains 113,696 SVs (63,177 insertions, 49,704 deletions, +744 inversions, 71 duplications). Each variant was called by up to five +independent methods (three alignment-based: Sniffles2, cuteSV, SVIM; +and assembly-based hapdiff on Flye or Shasta/Hapdup assemblies) and then +merged across callers and samples with Jasmine to produce a +cross-sample consensus catalog. +

+

+This 100-sample Gustafson cohort is distinct from the Vienna +1000-Genomes-ONT release (1KG ONT SVs), +which uses different samples, pore chemistry and callers; the two +releases share neither samples nor calls. +

+ +

Display Conventions and Configuration

+

+Items are colored by SV type: +

+

+

+Insertions are placed at the insertion site with a width of 1 bp; deletions, +duplications and inversions span the affected reference interval. Filters +are available for SV type, SV length and carrier-sample count. The detail +page also shows the number of per-caller calls supporting each site +(VARCALLS) and whether the source caller marked the breakpoints as precise. +

+ +

Methods

+

+Long-read whole-genome sequencing was performed on 100 1000 Genomes +samples with ONT R9.4.1 pores at a median coverage of ~37x and read N50 +of ~54 kb. Reads were aligned to GRCh38 with minimap2 and, for a subset, +with the CARD pipeline. De novo assemblies were produced with Flye and +with Shasta/Hapdup. Per-sample structural variant calls were generated +with five independent methods (Sniffles2, cuteSV, SVIM on alignments; +hapdiff on Flye and on Shasta/Hapdup assemblies) and merged across +callers with Jasmine in two stages: first within each sample +(intra-sample) to build per-sample consensus SVs, then across all 100 +samples to produce the shared site-level callset used here. +

+ +

Data Access

+

+The data can be explored interactively in table format with the +Table Browser or the +Data Integrator, and accessed +programmatically through our API, +track=gustafsonSv. +

+

+The bigBed is available from +our +download server as gustafson.bb. Example: +bigBedToBed http://hgdownload.soe.ucsc.edu/gbdb/hg38/lrSv/gustafson.bb -chrom=chr21 -start=0 -end=100000000 stdout. +

+

+The original VCF is available from the 1000 Genomes ONT S3 bucket: + +20240423_jasmine_intrasample_noBND_custom_suppvec_alphanumeric_header_JASMINE.vcf.gz. +

+ +

Credits

+

+Thanks to Gustafson and colleagues and the 1000 Genomes Project ONT +Sequencing Consortium for releasing this dataset. +

+ +

References

+ + +

+Gustafson JA, Gibson SB, Damaraju N, Zalusky MPG, Hoekzema K, Twesigomwe D, Yang L, Snead AA, +Richmond PA, De Coster W et al. + +High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive +catalog of human genetic variation. +Genome Res. 2024 Nov 20;34(11):2061-2073. +PMID: 39358015; PMC: PMC11610458 +

+