10271a8f9e23612d541e7907ddb691fc81f369d3 gperez2 Wed Oct 15 16:54:35 2025 -0700 Adding a SpliceAI Wildtype section under Display Conventions and Configuration, refs #35100 diff --git src/hg/makeDb/trackDb/human/spliceImpactSuper.html src/hg/makeDb/trackDb/human/spliceImpactSuper.html index e0ab97db475..c2f3d795d29 100644 --- src/hg/makeDb/trackDb/human/spliceImpactSuper.html +++ src/hg/makeDb/trackDb/human/spliceImpactSuper.html @@ -97,30 +97,37 @@ <ul> <li><b><font color="#FF8000">Predicted impact on splicing: Score >= 0.2 </font></b> </li> <li><b><font color="#808080">Not informative: Score < 0.2 and > 0.1 </font></b> </li> <li><b><font color="#0000FF">No impact on splicing: Score <= 0.1 </font></b> </li> </ul> </p> Mouseover on items shows the variant, gene name, type of change (donor gain/loss, acceptor gain/loss), location of affected cryptic splice, and spliceAI score. Clicking on any item brings up a table with this information. </p> <p> The scores range from 0 to 1 and can be interpreted as the probability of the variant being splice-altering. In the paper, a detailed characterization is provided for 0.2 (high recall), 0.5 (recommended), and 0.8 (high precision) cutoffs.</p> +<h3>SpliceAI Wildtype</h3> +<p> +These tracks are in bigWig format. The signal height represents the SpliceAI probability score. +This track may be configured in a variety of ways to highlight different aspects of the displayed +information. Click the "Graph configuration help" link for an explanation of configuration +options.</p> + <h3>SpliceVarDB</h3> <p>According to the strength of their supporting evidence, variants were classified as "splice-altering" (~25%), "not splice-altering" (~25%), and "low-frequency splice-altering" (~50%), which correspond to weak or indeterminate evidence of spliceogenicity. 55% of the splice-altering variants in SpliceVarDB are outside the canonical splice sites (5.6% are deep intronic). The data is shown as lollipop plots that can be clicked, the details page then shows a link to SpliceVarDB with full details. </p> <p>The classification thresholds primarily follow those established by the original study. However, most studies only defined criteria for splice-altering variants and did not define criteria for variants that resulted in normal splicing. The authors implemented stringent thresholds to define the normal category and ensure a high-quality set of control variants. Variants that did not meet these criteria were classified as low-frequency splice-altering