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iobio / rnasplice.iobio

Visualize short-read RNA splice events
https://rnasplice.iobio.io
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Annotate with SpliceVarDB #44

Open tonydisera opened 2 hours ago

tonydisera commented 2 hours ago

From @AlistairNWard -

We should look into the use of this database of splice variants (free for academic use) in the RNA app.

Barry, do we have many confirmed diagnostic splice variants in NeoSeq / ReSeq / Penelope? It would be good to see how useful this is if we look at the genes / variants in their browser.

Paper: https://www.cell.com/ajhg/fulltext/S0002-9297(24)00288-X Browser: https://compbio.ccia.org.au/splicevardb/

tonydisera commented 2 hours ago

curl -K 'https://compbio.ccia.org.au/splicevardb-api/variants/filter' \ -H 'Accept: /' \ -H 'Accept-Language: en-US,en;q=0.9' \ -H 'Authorization: Bearer ' \ -H 'Cache-Control: no-cache' \ -H 'Connection: keep-alive' \ -H 'Content-Type: application/json' \ -H 'Origin: https://compbio.ccia.org.au' \ -H 'Pragma: no-cache' \ -H 'Referer: https://compbio.ccia.org.au/splicevardb/' \ -H 'Sec-Fetch-Dest: empty' \ -H 'Sec-Fetch-Mode: cors' \ -H 'Sec-Fetch-Site: same-origin' \ -H 'User-Agent: Mozilla/5.0 (Macintosh; Intel Mac OS X 10_15_7) AppleWebKit/537.36 (KHTML, like Gecko) Chrome/129.0.0.0 Safari/537.36' \ -H 'sec-ch-ua: "Google Chrome";v="129", "Not=A?Brand";v="8", "Chromium";v="129"' \ -H 'sec-ch-ua-mobile: ?0' \ -H 'sec-ch-ua-platform: "macOS"' \ --data-raw '{"gene":["BRCA1"],"classification":["Splice-altering"],"validation":[]}'