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# INTRODUCTION
## Paragraph1:
Investigate the link between genetic variation and phenotypic change
Important because of desease stuff.
Tool used: Genome Wide Association Studies.
--> Describe in one sentence.
--> 2005 first study
--> Today 1200 GWAS performed
genetic markers usually SNPs.
SNPs definition. Allele definition.
SNP can be linked to a phenotypic trait (around 5000 linked to desease)
## Paragraph2:
How to obtain data for GWAS?
--> SNPChip, used in many different species
--> Now different companies for DTC genetic testing.
--> Test results provided to customer and raw data
--> Raw data can be used for GWAS, but closed
## Paragraph3:
RAW data from 1000 of individuals could be used for multiple scientific
purposes
---> Large potential dataset Are the numbers available for dataset size used
in scientic studies? 2005 93, 2008 500, 2011 23andme 100000? Plot?
Resolution of the problem: Open Science
Create repository for sharing this information. openSNP
## Paragraph4:
Describe openSNP:
Open Source, non-commercial
Open Data
Community driven --> Crowd sourcing
Parses data from 23andMe deCODEme....
--> Publications crawler (Maybe mention mendeley price?)
--PLOS and Mendeley
Advantages for scientists: See paragraph 3
Advantages for customers:
-->Make sense of the data
-->Contribute to the public domain
# RESULTS
* Graphics:
** Screenshot of openSNP
** Plot of rise in users, genotypes, phenotypes (x = time, y = number
** Plot of distribution of userphenotypes on phenotypes (x = Number of users which have entered data on single phenotype y= number of phenotypes with that many users)
** Pie-Chart of publications (snpedia,plos,mendeley OA, mendeley closed access)
# DISCUSSION
to-do list together with outlook of personalised medicine
## Paragraph 1:
First focus on biological issues:
Polymorphisms to phenotypes, correlation only. done
Bias in the samples collected by openSNP? done
Sample size to small? done
Quality check for phenotypes? done
Mapping to haplotype blocks?
Combination with the hapmap
Manage increasing amount of data?
## Paragraph 2:
from great power follows great responsibility!
Imagine a world where all data is free...
What privacy issues do arise? done
Is there an effective mechanism to avoid abuse or
genetic discrimination? done
How should governments treat the additional data? done