cc6ef4c74d072de9c22e8bb88ab0e0983e6f2f47 max Wed Jul 22 18:09:16 2026 -0700 lrSv cardSv: switch CARD count fields from carrier counts to allele counts The NIH CARD provider republished the display bigBed with the count columns changed to diploid allele counts (alleleCount = nabecAlleleCount + hbccAlleleCount). Re-downloaded and rebuilt; renamed the schema fields to AC / nabecAc / hbccAc, updated filter ranges (0:702, 0:410, 0:292) and labels to allele counts, and reworded cardSv.html and the lrSv.html summary. Also noted there are no Alzheimer's cases in these cohorts. Re-ran the merge so lrSvAll carries CARD's allele counts. refs #36258 diff --git src/hg/makeDb/scripts/lrSv/lrSvCard.as src/hg/makeDb/scripts/lrSv/lrSvCard.as index fcde2f4c613..eefb8682540 100644 --- src/hg/makeDb/scripts/lrSv/lrSvCard.as +++ src/hg/makeDb/scripts/lrSv/lrSvCard.as @@ -1,20 +1,20 @@ table lrSvCard "NIH CARD long-read structural variants (351 brain samples: 205 NABEC, 146 HBCC)" ( string chrom; "Chromosome" uint chromStart; "Start position" uint chromEnd; "End position" string name; "Variant ID" uint score; "Score" char[1] strand; "Strand" uint thickStart; "Thick start (same as chromStart)" uint thickEnd; "Thick end (same as chromEnd)" uint reserved; "Item color" string svType; "SV Type|DEL, INS, INV or DUP" int svLen; "SV Length|Length of the variant on the reference in base pairs" int insLen; "Insertion Length|Length of inserted sequence, 0 for DEL/INV/DUP" - int AC; "Allele Count|Number of samples carrying this variant (genotyped carrier count)" - float alleleFreq; "Allele Frequency|Fraction of samples carrying this variant (source VCF AF)" - uint nabecCount; "NABEC Carriers|Carrier samples of European ancestry (NABEC cohort)" - uint hbccCount; "HBCC Carriers|Carrier samples of African/African-admixed ancestry (HBCC cohort)" + int AC; "Allele Count|Alternate allele count for this variant (NABEC + HBCC)" + float alleleFreq; "Allele Frequency|Alternate allele frequency (source VCF AF)" + uint nabecAc; "NABEC Allele Count|Alternate allele count in the European-ancestry NABEC cohort" + uint hbccAc; "HBCC Allele Count|Alternate allele count in the African/African-admixed HBCC cohort" )