798b37017a4e1b95f3ccdf7c8b477dfb5446a324 lrnassar Fri Jul 24 15:22:34 2026 -0700 lrSv: QA fixes for cardSv/noyvertSv additions - BND filter, makedoc, link targets. refs #37888 Add BND to filterValues.svType on the longReadVariants supertrack and the merged lrSvAll track (and the lrSvMergeAll.py generator) so the breakend variants that noyvertSv contributes are filterable. Correct a stale makedoc comment that said CARD was not in the lrSvAll merge (it is). Add target="_blank" to the API and hgdownload links in cardSv.html and noyvertSv.html. diff --git src/hg/makeDb/doc/hg38/lrSv.txt src/hg/makeDb/doc/hg38/lrSv.txt index df579e947d4..baf41227165 100644 --- src/hg/makeDb/doc/hg38/lrSv.txt +++ src/hg/makeDb/doc/hg38/lrSv.txt @@ -659,31 +659,31 @@ bigBedToBed NIH_CARD_longReadSVs.bb stdin \ | python3 $HOME/kent/src/hg/makeDb/scripts/lrSv/lrSvCardBbToBed.py /dev/stdin cardSv.bed # CARD: 228,855 input records written; by type: DEL=101,570, DUP=1, # INS=126,853, INV=431 # CARD: 32 records with svLen or insLen > 1 Mb kept (large ONT/assembly calls) bedSort cardSv.bed cardSv.sorted.bed bedToBigBed -type=bed9+ -as=$HOME/kent/src/hg/makeDb/scripts/lrSv/lrSvCard.as \ -tab cardSv.sorted.bed /hive/data/genomes/hg38/chrom.sizes cardSv.bb # All 228,855 provider records are carried through 1:1 (no rows dropped). The # provider bigBed itself is a subset of the ~234,905 SVs reported in the paper. # A handful of very large calls (INS up to 92 Mb, several multi-Mb INV/DEL) are # almost certainly ONT/assembly artifacts but are kept, not silently dropped. # svLen is stored as the reference span (1 bp for INS); the inserted-sequence # length lives in insLen. AC is the genotyped carrier count (= nabecCount + -# hbccCount). Not added to the lrSvAll merge for now. +# hbccCount). Included in the lrSvAll merge (source key CARD). ########## # 2026-07-17 Claude max # noyvertSv: multi-ancestry long-read SV imputation panel, 888 Oxford Nanopore # genomes from the 1000 Genomes Project (164 EUR, 144 AMR, 168 EAS, 171 SAS, # 241 AFR), SVs jointly called with Sniffles2 v2.0.7. # Paper: Noyvert et al. 2025, eLife reviewed preprint, doi 10.7554/eLife.106115 # (no PMID; not indexed in PubMed). # # The authors shared a per-variant summary table (SV.Noyvert.et.al.tsv.gz) with # all 107,445 panel SVs: per-superpopulation allele frequencies, Sniffles2 # stdev metrics, Hardy-Weinberg p-values, leave-one-out and UK Biobank # imputation accuracy, and, where applicable, the significant UK Biobank SV-WAS # trait associations. Inserted sequences are not included in the file. There is