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/tommoJpSv.html src/hg/makeDb/trackDb/human/tommoJpSv.html index 10c3117337e..91d181cf572 100644 --- src/hg/makeDb/trackDb/human/tommoJpSv.html +++ src/hg/makeDb/trackDb/human/tommoJpSv.html @@ -48,48 +48,77 @@ whole-genome sequencing on PromethION instruments with R9.4.1 flow cells (SQK-LSK109 libraries, Guppy v4.2.2 high-accuracy base-calling). After QC, median per-sample sequencing coverage was 22.2x with a read N50 of 25.8 kb. Reads were aligned to GRCh38 with LRA, SVs were called per sample with CuteSV v1.0.9 (-min_sv_length 50), and per-sample calls were merged with SURVIVOR v1.0.6 (1000 bp distance, type-match, no length-match) into a nonredundant panel of 74,201 autosomal SVs (37,981 deletions and 36,220 insertions). Over 95% of the SVs were concordant with Mendelian inheritance in the 111 trio families; allele frequencies in this track are computed from the 222 unrelated parents to avoid double-counting.
The site-only VCF tommo-JSV1-20211208-GRCh38-without-genotype-count.vcf.gz -was downloaded from the jMorp JSV1 dataset page, - +was downloaded from the jMorp JSV1 download page, + tommo-jsv1-20211208-af.
The step-by-step build commands (download, format conversion, bigBed build) are recorded in the UCSC makeDoc for this track container: doc/hg38/lrSv.txt. The conversion scripts and autoSql schemas live in makeDb/scripts/lrSv.
Source data is available from the -jMorp downloads page (ToMMo Japanese Multi Omics Reference Panel). +tommo-jsv1-20211208-af download page on the jMorp +portal (ToMMo Japanese Multi Omics Reference Panel). +
+ ++The information in the ToMMo jMorp database is provided only to persons +who agree to jMorp's + +Conditions of Use. By using these data, you are deemed to have read +and understood those conditions and to agree to the following obligations: +
Thanks to the Tohoku Medical Megabank Organization for making their structural variant calls publicly available through the jMorp data portal.
Otsuki A, Okamura Y, Ishida N, Tadaka S, Takayama J, Kumada K, Kawashima J, Taguchi K, Minegishi N, Kuriyama S et al.