Wiki » History » Revision 21
Revision 20 (Jason Bobe, 02/01/2010 03:31 PM) → Revision 21/88 (Jason Bobe, 02/01/2010 03:55 PM)
= 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! == Field Descriptions and Definitions == === Short Summary === * free text providing a one line summary of clinical action to be undertaken given this variant (possibly modified by known phenotypes). === Variant Quality === 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. When Genetests and/or the literature correlate this variant with a number of phenotypes the impact should be reported for the most extreme condition a. Computational: Average of predictions generated by SIFT, !PolyPhen and NBLOSUM. a. Molecular and Cellular: Results of experiments involving enzyme extracts, cell lines and animal models. a. Clinical Population: Odds Ratio a. Clinical Family: LOD score. a. Clinical 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 === When Genetests and/or the literature correlate this variant with a number of phenotypes the impact should be reported for the most extreme condition. a. Pathogenic: Causative for disease; the evidence must have four stars in one of the clinical categories and at least three stars in two other categories. a. Putative Pathogenic: a. Putative Benign a. Benign a. Putative Protective a. Protective: Protective from disease; the evidence must have four stars in one of the clinical categories and at least three stars in two other categories. a. Other a. Unknown === Inheritance Pattern === a. Dominant a. Recessive a. Other: A defined form of inheritance that is neither dominant or recessive (e.g. modifier, co-dominant, incomplete penetrance). These variants will get prioritized due to their potential phenotypic affect should the additional factors be present. a. Undefined: Undefined in the literature. a. Unknown: The default value for all variants and all variants without literature. === Summary of published research, and additional commentary === * Free text providing a comprehensive review of the variant === Allele Frequency Miscellaneous === * Allele Frequency: Automatically generated frequencies for the !HapMap Project, 1000 Genomes Project and the weighted average of the two. Sub-population frequencies are currently not shown. === Publications === * 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 === * 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 === References: These are automatically generated by web "robots": 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 === * Edit History: Automatically generated history of all page edits with the contributor's name. == To Do == * [wiki:GET-Evidence/23andWe] == Suggestions == * your suggestion here.