7bdcd030cdf434c72f3f6a492ee8f84372c752c7 max Sat Jul 25 19:22:57 2026 -0700 noyvertSv: note the Boehringer/Vienna relationship and call-level overlap The Noyvert panel is an independent reprocessing of the same ONT reads as the 1KG ONT Vienna track (Schloissnig et al. 2025). Add a description sentence with the deletion counts (~38k vs ~58k, ~12k shared at 50% reciprocal overlap) and the concordance both ways (about a third of this track's deletions and a fifth of Vienna's at 50%, a quarter and a sixth at 90%; ~a quarter of insertions match within 100 bp). Overlap analysis recorded in the makeDoc. refs #37888 diff --git src/hg/makeDb/trackDb/human/noyvertSv.html src/hg/makeDb/trackDb/human/noyvertSv.html index 84225b9824b..597b64f7cd4 100644 --- src/hg/makeDb/trackDb/human/noyvertSv.html +++ src/hg/makeDb/trackDb/human/noyvertSv.html @@ -14,31 +14,38 @@ Each variant is annotated with its overall allele frequency; allele frequencies across five superpopulations (African, Admixed American, East Asian, European, and South Asian); Hardy-Weinberg equilibrium p-values; and imputation accuracy metrics from internal leave-one-out validation and UK Biobank imputation. For SVs reaching genome-wide significance, the associated traits, p-values, and INFO scores are listed on the corresponding variant details page.
This dataset is an independent reprocessing of the same Oxford Nanopore reads used for the 1KG ONT Vienna track (Schloissnig et al. 2025). The 888 samples in this dataset are a subset of the 1,019 samples included in that track, with both datasets based on the same underlying sequencing data. However, the data-processing and SV-calling methods differ between the two -tracks. The imputation reference panel, UK Biobank imputation results, and +tracks, so the individual calls are only partially concordant. This track has +about 38,000 deletions and the Vienna track about 58,000; at a 50% +reciprocal-overlap threshold roughly 12,000 are shared. That is about a third +of the deletions in this track and, conversely, about a fifth of the Vienna +deletions; requiring at least 90% mutual overlap lowers these shares to roughly +a quarter and a sixth, respectively. A similar fraction (about a quarter) of +the insertions in this track have a size-matched Vienna insertion within +100 bp. The imputation reference panel, UK Biobank imputation results, and SV-wide association study (SV-WAS) results described here are specific to this track.
Items are colored by SV type, matching the other subtracks of the container:
| Deletion (DEL) | |
| Insertion (INS) | |
| Duplication (DUP) |