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 @@ </tr> <tr> <td><a href="hgTrackUi?g=chirmade101Sv">SVatalog 101</a></td> <td>101</td> <td>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</td> <td>Yes (all CF)</td> <td>~50x PacBio CLR (34, Sequel I) + ~76x HiFi (67, Sequel II)</td> <td>87,068</td> <td>4</td> <td>160</td> <td>1,321,484</td> </tr> <tr> <td><a href="hgTrackUi?g=cardSv">NIH CARD 351</a></td> <td>351</td> - <td>NIH CARD post-mortem brain (prefrontal cortex); NABEC (European) + HBCC (African/African-admixed), neurologically normal controls</td> + <td>NIH CARD post-mortem brain (prefrontal cortex); NABEC (European) + HBCC (African/African-admixed), no Alzheimer's disease cases</td> <td>No</td> <td>~40x ONT (R9.4.1 / R10.4.1)</td> <td>228,855</td> <td>1</td> <td>1</td> <td>30,282,742</td> </tr> <tr> <td><a href="hgTrackUi?g=noyvertSv">Noyvert 888</a></td> <td>888</td> <td>1000 Genomes, 5 superpopulations; used to impute SVs into ~500,000 UK Biobank participants</td> <td>No</td> <td>~15x ONT (R9.4.1)</td> <td>107,445</td> <td>1</td> @@ -355,40 +355,41 @@ <h3><a href="hgTrackUi?g=chirmade101Sv">SVatalog 101 SVs - Cystic Fibrosis</a></h3> <p> 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. </p> -<h3><a href="hgTrackUi?g=cardSv">NIH CARD 351 SVs - Alzheimer's and related dementias</a></h3> +<h3><a href="hgTrackUi?g=cardSv">NIH CARD 351 SVs</a></h3> <p> 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. </p> <h3><a href="hgTrackUi?g=noyvertSv">Noyvert 888 SVs</a></h3> <p> 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. </p>