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. </p> <p> This dataset is an independent reprocessing of the same Oxford Nanopore reads used for the <a href="hgTrackUi?g=lrSv1kgOnt">1KG ONT Vienna</a> 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. </p> <h2>Display Conventions and Configuration</h2> <p> Items are colored by SV type, matching the other subtracks of the container: </p> <table class="stdTbl"> <tr><th style="background-color:#C80000;width:2em"> </th> <td>Deletion (DEL)</td></tr> <tr><th style="background-color:#0000C8;width:2em"> </th> <td>Insertion (INS)</td></tr> <tr><th style="background-color:#00A000;width:2em"> </th> <td>Duplication (DUP)</td></tr>