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/trackDb/human/lrSv.html src/hg/makeDb/trackDb/human/lrSv.html index 6621e40f46a..c2ad0693e4a 100644 --- src/hg/makeDb/trackDb/human/lrSv.html +++ src/hg/makeDb/trackDb/human/lrSv.html @@ -195,31 +195,31 @@ SVatalog 101 101 Cystic fibrosis (CF) patients from the CF Canada-Sick Kids Program in Individual CF Therapy (CFIT). Long-read WGS used for GWAS LD fine-mapping Yes (all CF) ~50x PacBio CLR (34, Sequel I) + ~76x HiFi (67, Sequel II) 87,068 4 160 1,321,484 NIH CARD 351 351 - NIH CARD post-mortem brain (prefrontal cortex); NABEC (European) + HBCC (African/African-admixed), neurologically normal controls + NIH CARD post-mortem brain (prefrontal cortex); NABEC (European) + HBCC (African/African-admixed), no Alzheimer's disease cases No ~40x ONT (R9.4.1 / R10.4.1) 228,855 1 1 30,282,742 Noyvert 888 888 1000 Genomes, 5 superpopulations; used to impute SVs into ~500,000 UK Biobank participants No ~15x ONT (R9.4.1) 107,445 1 @@ -355,40 +355,41 @@

SVatalog 101 SVs - Cystic Fibrosis

Structural variants from 101 long-read whole-genome sequences released alongside the GWAS SVatalog tool (Chirmade et al. 2026). The samples come from the CF Canada-Sick Kids Program in Individual CF Therapy (CFIT), a cystic-fibrosis (CF) patient cohort assembled to model patient-specific responses to CFTR modulator therapies (most participants are F508del homozygotes or F508del / minimal-function compound heterozygotes; a smaller number carry rare nonsense or missense CFTR mutations). ~87k SVs (deletions, insertions, duplications, inversions and complex events) annotated with gene overlaps, ClinGen / gnomAD constraint scores, OMIM / ClinVar / DGV / Decipher regional annotations.

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NIH CARD 351 SVs - Alzheimer's and related dementias

+

NIH CARD 351 SVs

Structural variants from Oxford Nanopore long-read sequencing of post-mortem -brain tissue (prefrontal cortex) from 351 neurologically normal individuals, -generated by the NIH Center for Alzheimer's and Related Dementias (NIH CARD) -Long-Read Initiative (Billingsley et al. 2024). The cohort combines 205 -European-ancestry samples (North American Brain Expression Consortium, NABEC) -and 146 African / African-admixed samples (NIMH Human Brain Collection Core, -HBCC). ~229k SVs (insertions, deletions, inversions) with per-cohort carrier -counts and allele frequencies. +brain tissue (prefrontal cortex) from 351 individuals, generated by the NIH +Center for Alzheimer's and Related Dementias (NIH CARD) Long-Read Initiative +(Billingsley et al. 2024). These are population brain-tissue cohorts with no +Alzheimer's disease cases. The cohort combines 205 European-ancestry samples +(North American Brain Expression Consortium, NABEC) and 146 African / +African-admixed samples (NIMH Human Brain Collection Core, HBCC). ~229k SVs +(insertions, deletions, inversions) with per-cohort allele counts and allele +frequencies.

Noyvert 888 SVs

Structural variants from Oxford Nanopore long-read sequencing of 888 individuals from the 1000 Genomes Project, spanning five ancestry groups (European, Admixed American, East Asian, South Asian, African; Noyvert et al. 2025). ~107k SVs (insertions, deletions, inversions, breakends and duplications) called with Sniffles2, with overall and per-superpopulation allele frequencies, Sniffles2 and Hardy-Weinberg quality metrics, and imputation accuracy. The panel was used to impute SVs into about 500,000 UK Biobank participants and test them for association with disease traits and protein levels; genome-wide significant UK Biobank associations are listed on each variant's details page.