5b5ea7d1448dd08f87d89d7eb0d538492b58c399
SP3.md
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| 1 | -# SP3 |
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| 2 | - |
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| 3 | -## History |
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| 4 | -```mermaid |
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| 5 | -%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
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| 6 | -timeline |
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| 7 | - title Publication timing |
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| 8 | - 2019-09-26 : Panea : BL |
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| 9 | -``` |
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| 10 | - |
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| 11 | -## Relevance tier by entity |
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| 12 | - |
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| 13 | -|Entity|Tier|Description | |
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| 14 | -|:------:|:----:|--------------------------------------| |
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| 15 | -| |2 |relevance in BL not firmly established| |
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| 16 | - |
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| 17 | -## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
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| 18 | - |
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| 19 | -|Entity|source |frequency (%)| |
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| 20 | -|:------:|:---------------------:|:-------------:| |
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| 21 | -|BL |GAMBL genomes+capture|3.0 | |
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| 22 | -|BL |Thomas cohort |2.5 | |
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| 23 | -|BL |Panea cohort |5.0 | |
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| 24 | - |
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| 25 | -## Mutation pattern and selective pressure estimates |
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| 26 | - |
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| 27 | -|Entity|aSHM|Significant selection|dN/dS (missense)|dN/dS (nonsense)| |
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| 28 | -|:------:|:----:|:---------------------:|:----------------:|:----------------:| |
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| 29 | -|BL |No |No |1.249 |16.244 | |
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| 30 | -|DLBCL |No |No |1.085 |25.775 | |
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| 31 | -|FL |No |No |2.231 |27.201 | |
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| 32 | - |
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| 33 | - |
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| 34 | - |
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| 35 | -View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/SP3_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/SP3_protein_hg38.html) |
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| 36 | - |
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| 37 | - |
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| 38 | - |
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| 39 | -View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/SP3.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/SP3_hg38.html) |
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| 40 | - |
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| 41 | - |
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| 42 | - |
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| 43 | -## SP3 Expression |
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| 44 | - |
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| 45 | -<!-- ORIGIN: paneaWholeGenomeLandscape2019 --> |
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| 46 | -<!-- BL: paneaWholeGenomeLandscape2019 --> |
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| 47 | - |
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| 48 | -## References |
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| 49 | -1. Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019; |