3dd0329ee0e804f5841a9998c4e7f024d3276921 lrnassar Wed Sep 9 17:20:20 2026 -0700 Releasing the AlphaGenome Variant Impact (AVI) score track for hg38. refs #38261 Moves the bigWigs to /gbdb/hg38/_alphaGenome/, the underscore convention that keeps non-redistributable data off the download server, matching PromoterAI and PrimateAI, and drops the alpha release tag. Shortens the composite longLabel to fit the 85 character limit and lowercases Score in the longLabels. Adds a New pennantIcon and points the Deleteriousness Predictions container pennant at the Sept. 10 news post. Corrects the median on the description page from 1.6 to 2.9. The old figure counted the zero-filled reference base slots, which are not variants. Removes two threshold statements that are not in the AlphaGenome Atlas preprint or any public source. Adds the /gbdb symlink step to the makeDoc, and fixes three container page links that were missing target=_blank. diff --git src/hg/makeDb/trackDb/human/alphaGenome.html src/hg/makeDb/trackDb/human/alphaGenome.html index eba79ecd514..9242a48f2d5 100644 --- src/hg/makeDb/trackDb/human/alphaGenome.html +++ src/hg/makeDb/trackDb/human/alphaGenome.html @@ -16,34 +16,33 @@
Because there are three possible substitutions at each position, the scores are split across four separate graphs, one for each alternate allele. The graph labelled "Mutation: A" shows the score for changing the reference base to an A, and so on. At any given position only three of the four graphs carry a real prediction; the fourth is the one matching the reference base, where no substitution exists, and it is shown as zero.
The source data gives two numbers per variant, a raw model score and a PHRED-scaled version of it. This track displays the PHRED-scaled score, which is easier to compare across variants: it is a rank in which 10 corresponds to the top 10 percent of the most impactful substitutions in the genome, 20 to the top 1 percent, and 30 to the top 0.1 percent. Higher values therefore -indicate a variant predicted to be more damaging. Any score above 20 can be considered high, and -the authors recommend treating 50 as the top of the useful range. Most positions score low, with -a genome-wide median near 1.6, so the default view is scaled to 0 to 30 rather than to the -observed maximum of about 89. Scores above the top of the range are drawn clipped at the top of +indicate a variant predicted to be more damaging. Most substitutions score low, with a +genome-wide median near 2.9, so the default view is scaled to 0 to 30 rather than to the observed +maximum of about 89. Scores above the top of the range are drawn clipped at the top of the graph; the range can be changed on the track configuration page.
Individual scores are only shown when the view is zoomed in far enough. At wider zoom levels the graph shows the range of scores in each screen pixel rather than a single value.
The AVI score comes from a machine learning model that combines several kinds of evidence about a variant: AlphaGenome regulatory predictions, AlphaMissense pathogenicity scores for changes that fall in coding sequence, measures of evolutionary sequence conservation, and further functional annotations. Google DeepMind precomputed the score for all single-base substitutions in GRCh38 and released it as a tab-separated, tabix-indexed table of chromosome, position, reference allele, alternate allele, raw score and PHRED score. The method is described in the