9711cb56111546aeed1be4b2c0ba1738080c848c lrnassar Tue Jul 28 17:31:52 2026 -0700 Fix "basepair" wording and Methods punctuation on the Deleteriousness Predictions description pages per QA feedback. refs #37510 Changes "basepair" to "base" in the shared zoom-in instructions on clinPred, revel, alphaMissense, caddSuper, and caddSuper1_7, and normalizes predictionScoresSuper from "base pair" to "base" so the container is consistent. Removes an awkward comma in the source-repository sentence on clinPred and revel. Switches the hgdownload links on the clinPred page to https to match the other links on that page. diff --git src/hg/makeDb/trackDb/human/revel.html src/hg/makeDb/trackDb/human/revel.html index 861cd0f6d0a..6ea8c2a8586 100644 --- src/hg/makeDb/trackDb/human/revel.html +++ src/hg/makeDb/trackDb/human/revel.html @@ -73,31 +73,31 @@ field, some transcripts have been agreed-on as more relevant for a disease, e.g. because only certain transcripts may be expressed in the relevant tissue. So the choice of the most relevant transcript, and as such the REVEL score, may be a question of manual curation standards rather than a result of the variant itself.

Note further that these thresholds represent the recommended score cutoffs for genes with no Variant Curation Expert Panel (VCEP) rules. For genes with published VCEP rules, the VCEP might select different thresholds, which are adjusted for the frequency of the relevant disorders. These are available in the ClinGen Criteria Specification.

-When using this track, zoom in until you can see every basepair at the +When using this track, zoom in until you can see every base at the top of the display. Otherwise, there are several nucleotides per pixel under your mouse cursor and no score will be shown on the mouseover tooltip.

Track colors

This track is colored according to Table 2 in Pejaver et al. The colors represent the recommended ClinGen score cutoffs. @@ -162,31 +162,31 @@ binary for your system. Instructions for downloading source code and binaries can be found here. The tools can also be used to obtain features confined to given range, e.g.
 
bigWigToBedGraph -chrom=chr1 -start=100000 -end=100500 http://hgdownload.soe.ucsc.edu/gbdb/$db/revel/a.bw stdout

Methods

Data were converted from the files provided on the REVEL Downloads website. As with all other tracks, a full log of all commands used for the conversion is available in our -source repository, for hg19 and hg38. The release used for each assembly is shown on the track description page. +source repository for hg19 and hg38. The release used for each assembly is shown on the track description page.

Credits

Thanks to the REVEL development team for providing precomputed data and fixing duplicated values in the hg38 files.

References

Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, Musolf A, Li Q, Holzinger E, Karyadi D, et al. REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants Am J Hum Genet. 2016 Oct 6;99(4):877-885. PMID: 27666373;

Range Classification