View source for Fabry:Mapping point mutations/Journal

[[Fabry Disease]] » [[Fabry:Mapping point mutations|Mapping point mutations]] » Journal
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== OMIM ==
In this database we searched for the gene [http://omim.org/entry/300644 GLA] and downloaded the Table View table of the Allelic Variants, which can be found in the Table of Contents. This table was parsed with the perl scripts [https://www.dropbox.com/s/x4siql37ekg376v/readOMIM.pl.txt readOMIM.pl] and [https://www.dropbox.com/s/s0xanck5jhe2pgo/Omim2table.pl.txt Omim2table.pl], which created all the output we needed for creation of the tables and statistics. 
 perl [https://www.dropbox.com/s/x4siql37ekg376v/readOMIM.pl.txt readOMIM.pl]
 perl [https://www.dropbox.com/s/s0xanck5jhe2pgo/Omim2table.pl.txt Omim2table.pl] > omim.wiki

== SNPedia ==

== SNPdbe ==
The textfile containing all informations gathered in SNPdbe was downloaded after searching for the gene identifier "NP_000160" in the organism "human" ([http://www.rostlab.org/services/snpdbe/dosearch.php?id=name&val=NP_000160&organism2=human&organism1= see]). The textfile was parsed with the perl scripts [https://www.dropbox.com/s/qp7gr2nxpj91yr9/readSNPdbe.pl.txt readSNPdbe.pl] and [https://www.dropbox.com/s/ygrds0su20ojafi/SNPdbe2table.pl.txt SNPdbe2table.pl] and vizualised with the R script [https://www.dropbox.com/s/4vw4elo84ywkk3m/Hotspots_SNPdbe.R.txt Hotspots_SNPdbe.R]. For now, a SNP was considered disease causing if there was a disease listed, if it was a "N/A" it was assigned "non-disease".

 perl [https://www.dropbox.com/s/qp7gr2nxpj91yr9/readSNPdbe.pl.txt readSNPdbe.pl]
 perl [https://www.dropbox.com/s/ygrds0su20ojafi/SNPdbe2table.pl.txt SNPdbe2table.pl] > SNPdbe.wiki
 R CMD BATCH [https://www.dropbox.com/s/4vw4elo84ywkk3m/Hotspots_SNPdbe.R.txt Hotspots_SNPdbe.R]

== Mapping ==
[[Category: Fabry Disease 2012]]