d92e36dbbee172d6bb81a751eb8bb935f356890c max Fri Jul 17 09:31:28 2026 -0700 lrSv: add cardSv and noyvertSv to the lrSvAll merged track #Preview2 week - bugs introduced now will need a build patch to fix Append NIH CARD 351 (AC/alleleFreq) and Noyvert 888 (AC/AF) to databases.tsv and re-run lrSvMergeAll.py: 16 source databases now, 3,018,404 input variants merged to 2,582,278 (was 14 dbs, 2,317,508). Regenerated lrSvAll.ra (filterValues.sources + sourceCount 1:16) and updated the container summary table. refs #36258 diff --git src/hg/makeDb/doc/hg38/lrSv.txt src/hg/makeDb/doc/hg38/lrSv.txt index c0695510eaf..4853d64177a 100644 --- src/hg/makeDb/doc/hg38/lrSv.txt +++ src/hg/makeDb/doc/hg38/lrSv.txt @@ -714,15 +714,26 @@ # shared lrSv convention (see lrSvCommon.py): 1 bp for INS/BND, the interval # length for DEL/INV/DUP. The inserted-sequence length lives in insLen (INS # only; the source SVLEN). This is why the summary table on the lrSv.html # container page shows min=median=1 for this dataset (INS dominate). # - AC/AN are approximate (the source has only AF): AN = round(2*888*(1-missing # rate)); AC = round(AF*AN). Documented as approximate in trackDb and on the # track description page. # - BND mate breakend loci are stored in the secondBp field with the Sniffles2 # 'CHR' prefix lower-cased to 'chr' (some mates land on alt/random/Un/M/EBV # contigs; the primary breakpoint is always on a standard autosome). # - UKB_SVWAS_signif is reformatted comma-free into ukbGwas, with the number of # significant trait associations in nGwas (for filtering). # - Colors from the shared svColor() palette in lrSvCommon.py. # # Not added to the lrSvAll merge for now. + +# Added cardSv (NIH CARD 351) and noyvertSv (Noyvert 888) to the lrSvAll merge: +# both appended to databases.tsv (CARD uses alleleFreq for max-AF aggregation, +# Noyvert888 uses AF) and the merge re-run. The merge auto-regenerates +# lrSvAll.as and trackDb/human/lrSvAll.ra (now 16 source databases, +# filter.sourceCount 1:16). +python3 ~/kent/src/hg/makeDb/scripts/lrSv/lrSvMergeAll.py +# 3,018,404 input variants -> 2,582,278 merged (14.4% dedup), 16 databases +# (was 2,682,104 -> 2,317,508 with 14 databases). All INS store svLen=1 across +# every subtrack, so insertions merge on insLen; the merged median svLen is 1 +# (INS are 1.65M of 2.58M rows).