Wiki » History » Version 12
Jason Bobe, 02/01/2010 02:43 PM
| 1 | 1 | Jason Bobe | = Genotype + Environment = Trait (GET) Evidence Database = |
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| 3 | The '''GET Evidence''' project was started by Abraham Rosenbaum, Joe Thakuria, Xiaodi Wu and Alexander Wait Zaranek to help the [http://personalgenomes.org Personal Genome Project], the clinical genetics community, and, the general public interpret individual genomes. The database is closely integrated with [wiki:Trait-o-matic]. |
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| 5 | You can find the PGP production server at: |
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| 6 | * http://evidence.personalgenomes.org |
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| 8 | A development sandbox can be found at: |
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| 9 | * http://evidence-dev.personalgenomes.org |
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| 11 | Many contributors helped make '''GET Evidence''' possible. You can find specific contributions at: |
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| 12 | * http://evidence.personalgenomes.org/editors |
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| 14 | Please help the project by editing the database or making suggestions on the wiki! |
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| 16 | 2 | Jason Bobe | == To Do == |
| 17 | [wiki:GET-Evidence/23andWe] |
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| 18 | 1 | Jason Bobe | |
| 19 | 4 | Jason Bobe | == Field Descriptions and Definitions == |
| 20 | 6 | Jason Bobe | * Short Summary: Each of these fields is a sliding scale of 0-5 where 0 represents no evidence and 5 strong evidence that the Impact is correct. |
| 21 | 8 | Tom Clegg | a. Computational: Average of predictions generated by SIFT, !PolyPhen and NBLOSUM. |
| 22 | 7 | Jason Bobe | a. Molecular and Cellular: Results of enzyme extracts, cell lines and animal models. |
| 23 | 5 | Jason Bobe | a. Clinical |
| 24 | 7 | Jason Bobe | i. Population: Odds Ratio |
| 25 | i. Family: LOD score. |
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| 26 | 11 | Jason Bobe | i. Outcomes: The quality of studies investigating the effectiveness of action based on the described impact of this mutation given a specific phenotype/family history |
| 27 | 4 | Jason Bobe | * Impact |
| 28 | 11 | Jason Bobe | a. Pathogenic: |
| 29 | 5 | Jason Bobe | a. Putative Pathogenic |
| 30 | a. Putative Benign |
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| 31 | a. Benign |
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| 32 | a. Putative Protective |
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| 33 | a. Protective |
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| 34 | 9 | Jason Bobe | a. Other |
| 35 | 5 | Jason Bobe | a. Unknown |
| 36 | 4 | Jason Bobe | * Inheritance Pattern |
| 37 | 5 | Jason Bobe | a. Dominant |
| 38 | a. Recessive |
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| 39 | a. Other |
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| 40 | a. Unknown |
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| 41 | 4 | Jason Bobe | * Summary of published research, and additional commentary |
| 42 | * Allele Frequency |
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| 43 | * Publications |
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| 44 | * Genomes |
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| 45 | 12 | Jason Bobe | * Other External References: These are automatically generated |
| 46 | a. dbSNP: The link to the dbSNP entry for this nucleotide position (for this nucleotide change?) |
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| 47 | a. Genetests: Link to all clinical laboratories performing diagnostic tests on this gene and the list of diseases that the labs are looking for. |
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| 48 | a. Web Search Results: A web search for this exact variant using the Yahoo search engine |
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| 49 | 4 | Jason Bobe | * Edit History |
| 50 | 3 | Jason Bobe | |
| 51 | 1 | Jason Bobe | == Suggestions == |
| 52 | |||
| 53 | * your suggestion here. |