f350ebff8f2cc1e0772032e59e926b5e45b374cd lrnassar Tue May 5 16:18:28 2026 -0700 Adding ClinPred missense pathogenicity score track on hg19 and hg38. refs #37510 ClinPred (Alirezaie et al, AJHG 2018) joins the predictionScoresSuper supertrack as a composite of four bigWigs, one per alternate base, with a per-position color overlay (red for score >= 0.5 likely pathogenic, blue for < 0.5 likely benign). Adds clinPredToWig.py to convert the upstream score table to wig, a clinPred branch in makeWigColorByRevelCadd.py for the color overlay step, and reciprocal relatedTracks entries to REVEL, CADD, PrimateAI-3D, and AlphaMissense. Also adds Display Conventions and Credits entries in predictionScoresSuper.html for ClinPred, PrimateAI-3D, and PromoterAI. diff --git src/hg/makeDb/trackDb/human/clinPred.html src/hg/makeDb/trackDb/human/clinPred.html new file mode 100644 index 00000000000..1748d7654b5 --- /dev/null +++ src/hg/makeDb/trackDb/human/clinPred.html @@ -0,0 +1,126 @@ +

Description

+ +

+This track collection shows +ClinPred +scores, a machine-learning predictor of pathogenicity for nonsynonymous (missense) +single-nucleotide variants. ClinPred combines existing pathogenicity scores with +population allele frequency from gnomAD, and was trained on confidently annotated +disease-causing and benign variants from ClinVar. Pre-computed scores are +provided for all possible human missense variants in the exome. +

+ +

+Scores range from 0 to 1, with higher values indicating greater predicted +likelihood that a variant is disease-relevant. The authors recommend a score of +≥ 0.5 as evidence of pathogenicity. As with any pathogenicity prediction +score, ClinPred is intended as supporting evidence rather than a stand-alone +classifier. +

+ +

Display Conventions and Configuration

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+There are four subtracks in this collection, one for each possible alternate +nucleotide. At every exome position covered by ClinPred, three of the four +subtracks show a score (one per non-reference base) and the fourth, corresponding +to the reference base, is set to 0. Synonymous alternates — those that do +not change the encoded amino acid — are also set to 0, since ClinPred only +scores missense variants. Positions with no exome coverage are shown as gaps. +

+ +

+When using this track, zoom in until you can see every basepair at the top of +the display. Otherwise, several nucleotides fall under each pixel and no score +will be shown on the mouseover tooltip. +

+ +

Track colors

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+Each subtrack is colored by score using the threshold recommended by the +ClinPred authors: +

+ + + + + + + + + + + + + + + + + + +
RangeClassification
≥ 0.5Likely pathogenic
< 0.5Likely benign
+ +

Data Access

+ +

+ClinPred scores are available at the +ClinPred +website, which provides pre-computed scores for all possible human missense +variants. +

+ +

+The ClinPred data on the UCSC Genome Browser can be explored interactively with +the Table Browser or the +Data Integrator. For automated download +and analysis, the data are stored in bigWig files and can be downloaded from +our +download server. The files are named a.bw, c.bw, g.bw, t.bw. +Individual regions can be obtained using bigWigToBedGraph, which can +be compiled from source or downloaded as a precompiled binary; instructions +are here. +For example: +
 
+bigWigToBedGraph -chrom=chr1 -start=100000 -end=100500 http://hgdownload.soe.ucsc.edu/gbdb/$db/clinPred/a.bw stdout +

+ +

Methods

+ +

+Data were downloaded from the +ClinPred +website on May 5, 2026, and converted into four per-alternate-base bigWig +files using a custom script. As with all other tracks, a full log of the +commands used for the conversion is available in our +source repository, for +hg19 and +hg38. +

+ +

Data Use

+ +

+ClinPred scores are freely available for non-commercial applications. For +commercial use, please see the licensing information on the +ClinPred +website. +

+ +

Credits

+ +

+Thanks to the ClinPred authors for making the pre-computed scores available +through their website. +

+ +

References

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+Alirezaie N, Kernohan KD, Hartley T, Majewski J, Hocking TD. + +ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants. +Am J Hum Genet. 2018 Oct 4;103(4):474-483. +PMID: 30220433; PMC: PMC6174354 +