b86eab362ce697c350764ffe438ccdba8829e0f3 gperez2 Mon Jul 20 17:37:35 2026 -0700 Fixing the NMDetective-A/B score-range text (0 to 1, not -1 to +1), updating the citation to Lindeboom et al. 2019, and changing viewLimits to -0.3:1.5 on all four NMDetective subtracks. refs #37843 diff --git src/hg/makeDb/trackDb/human/hg38/nmd.html src/hg/makeDb/trackDb/human/hg38/nmd.html index 58e22b0acce..0747c3cea4e 100644 --- src/hg/makeDb/trackDb/human/hg38/nmd.html +++ src/hg/makeDb/trackDb/human/hg38/nmd.html @@ -28,34 +28,39 @@ (Plus Clinical).</li> <li><b><a href="hgTrackUi?g=nmdEscGencode">NMD escape Gencode</a></b>: NMD escape regions derived from GENCODE V49 transcripts.</li> <li><b><a href="hgTrackUi?g=nmdEscNcbiRefSeq">NMD escape NCBI RefSeq</a></b>: NMD escape regions derived from NCBI RefSeq Curated transcripts (NM_ and NR_ accessions only).</li> </ul> <p> Click either of the links to the track details here or above to show the four rules that were used (50 bp, intronless, 100 bp, long exon >400 nt). </p> <h3>NMDetective scores</h3> <p> Machine-learning predictions of NMD efficiency from +<a href="https://www.ncbi.nlm.nih.gov/pubmed/31659324" target="_blank">Lindeboom +et al. 2019</a> (NMDetective-A and NMDetective-B models, trained on <a href="https://www.ncbi.nlm.nih.gov/pubmed/27618451" target="_blank">Lindeboom -et al. 2016</a> (A and B models) and from Veiner <em>et al.</em> -(NMDetective-AI, pre-print 2026). Positive scores indicate predicted NMD -triggering; negative scores indicate predicted escape. +et al. 2016</a>) and from Veiner <em>et al.</em> +(NMDetective-AI, pre-print 2026). NMDetective-A and NMDetective-B scores range +from 0 to 1, with values near 1 indicating predicted NMD triggering and values +near 0 indicating predicted escape. NMDetective-AI uses a different scale, +roughly -1.1 to +1.5, with higher values indicating triggering and lower +values indicating escape. </p> <ul> <li><b><a href="hgTrackUi?g=nmdDetectiveA">NMDetective-A</a></b>: Random forest model for all possible PTCs from nonsense variants.</li> <li><b><a href="hgTrackUi?g=nmdDetectiveB">NMDetective-B</a></b>: Decision tree model for all possible PTCs from nonsense variants.</li> <li><b><a href="hgTrackUi?g=nmdDetectiveA_ptc">NMDetective-A PTC</a></b>: Random forest model for the first out-of-frame PTC from frameshifting indels.</li> <li><b><a href="hgTrackUi?g=nmdDetectiveB_ptc">NMDetective-B PTC</a></b>: Decision tree model for the first out-of-frame PTC from frameshifting indels.</li> <li><b><a href="hgTrackUi?g=nmdDetectiveAi">NMDetective-AI</a></b> and <b><a href="hgTrackUi?g=nmdDetectiveAiBed">NMDetective-AI variants</a></b>: Deep-learning model on MANE Select transcripts (GENCODE V46). Signal track shows the position-averaged prediction; variants track shows one item per stop-gain mutation per codon.</li>