GET-Evidence

= Genotype + Environment = Trait (GET) Evidence Database =

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].

You can find the PGP production server at: * http://evidence.personalgenomes.org

A development sandbox can be found at: * http://evidence-dev.personalgenomes.org

Many contributors helped make '''GET Evidence''' possible. You can find specific contributions at: * http://evidence.personalgenomes.org/editors

Please help the project by editing the database or making suggestions on the wiki!

To Do
[wiki:GET-Evidence/23andWe] Field Descriptions and Definitions * 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.
a. Computational: Average of predictions generated by SIFT, !PolyPhen and NBLOSUM.
a. Molecular and Cellular: Results of enzyme extracts, cell lines and animal models.
a. Clinical
i. Population: Odds Ratio
i. Family: LOD score.
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 * Impact
a. Pathogenic:
a. Putative Pathogenic
a. Putative Benign
a. Benign
a. Putative Protective
a. Protective
a. Other
a. Unknown * Inheritance Pattern
a. Dominant
a. Recessive
a. Other
a. Unknown * Summary of published research, and additional commentary * Allele Frequency: Automatically generated frequencies for the HapMap Project, 1000 Genomes Project and the weighted average of the two. * Publications: User-entered publications and user entered synopses of the relevant details from the publication. A short summary is also entered for each paper (as above). * Genomes: Automatically generated list of all genomes from Trait-o-matic in which this variant is seen. Additionally, specific actions taken by each individual harboring the variant can be reported. * Other External References: These are automatically generated
a. dbSNP: The link to the dbSNP entry for this nucleotide position (for this nucleotide change?)
a. Genetests: Link to all clinical laboratories performing diagnostic tests on this gene and the list of diseases that the labs are looking for.
a. Web Search Results: A web search for this exact variant using the Yahoo search engine * Edit History Suggestions

• your suggestion here.