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updated score thresholds
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bw2 committed Oct 30, 2024
1 parent a7c3dd3 commit 6d7e388
Showing 1 changed file with 45 additions and 17 deletions.
62 changes: 45 additions & 17 deletions index.html
Original file line number Diff line number Diff line change
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<a href="https://github.com/broadinstitute/SpliceAI-lookup/issues" target="_blank">SpliceAI-lookup/issues</a>: issues or feature requests for this website<br />
<br/>
<b>November, 2024</b><br />
- show precomputed scores for <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187174/" target="_blank">PrimateAI-3D</a>, PromoterAI and other in-silico preditors<br />
- allow selection of <a href="https://genome.ucsc.edu/FAQ/FAQgenes.html#gencode" target="_blank">basic or comprehensive</a> Gencode gene set<br />
- update to Gencode v47 <br />
- precomputed scores for <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187174/" target="_blank">PrimateAI-3D</a>, PromoterAI and other in-silico preditors<br />
- added choice of <a href="https://genome.ucsc.edu/FAQ/FAQgenes.html#gencode" target="_blank">basic or comprehensive</a> Gencode gene set<br />
- updated to Gencode v47 <br />
<br />
<b>June 20, 2024</b><br />
- fixed SpliceAI visualizations to clarify positions of predicted splicing changes. See <a href="https://github.com/broadinstitute/SpliceAI-lookup/issues/70" target="_blank">issue #70</a> for details. <br />
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const ref = variantTokens[2]
const alt = variantTokens[3]

//example variant: 1-55039916-G-A (hg38)

const otherPredictorScores = []

const queryLookupTable = async () => {
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const helpTextForPredictorScores = {
"primateai3d": `<a href='https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187174/' target='_blank'>PrimateAI-3D</a> gene-specific thresholds are provided by the authors. Values above the threshold are annotated as likely deleterious.`,
"promoterai": `PromoterAI scores range from -1 to 1 with 0 meaning no activity, negative values are under-expression and positive values are over-expression. A threshold of +/-0.1 is used for high sensitivity, and +/-0.5 for high precision.`,
"cadd": "CADD scores",
"phylop": "PhyloP scores",
"revel": "REVEL scores",
"gnomAD": "gnomAD allele counts and allele numbers",
//"cadd": "CADD scores",
//"phylop": "PhyloP scores",
//"revel": "REVEL scores",
//"gnomAD": "gnomAD allele counts and allele numbers",
}

const nameMapForPredictorScores = {
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}
},
"cadd": (record) => {
const absScore = Math.abs(parseFloat(record.score))
if (absScore >= 20) {
const score = parseFloat(record.score)
if (score >= 28.1) {
return "#fccfb8"
} else if (absScore >= 10) {
} else if (score >= 25.3) {
return "#fff19d"
} else if (score >= 22.8) {
return "#cdffd7"
} else if (score >= 0.151) {
return "#cdffd7"
} else {
return "#ffffff"
}
},
"revel": (record) => {
const absScore = Math.abs(parseFloat(record.score))
if (absScore >= 0.5) {
const score = parseFloat(record.score)
if (score >= 0.773) {
return "#fccfb8"
} else if (absScore >= 0.1) {
} else if (score >= 0.644) {
return "#fff19d"
} else if (score >= 0.291) {
return "#cdffd7"
} else if (score >= 0.161) {
return "#cdffd7"
} else {
return "#ffffff"
}
},
"phylop": (record) => {
const absScore = Math.abs(parseFloat(record.score))
if (absScore >= 2) {
"sift": (record) => {
const score = parseFloat(record.score)
if (score < 0) {
return "#fccfb8"
} else if (score < 0.002) {
return "#fff19d"
} else if (score < 0.081) {
return "#cdffd7"
} else {
return "#ffffff"
}
},
"polyphen": (record) => {
const score = parseFloat(record.score)
if (score >= 0.999) {
return "#fccfb8"
} else if (absScore >= 1) {
} else if (score >= 0.978) {
return "#fff19d"
} else if (score >= 0.114) {
return "#cdffd7"
} else {
return "#ffffff"
}
},
"phylop": (record) => {
//const score = parseFloat(record.score)
return "#ffffff"
},

"default": (record) => {
return "#ffffff"
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