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pyukman / genomic-cds

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Add support for copy number variations #3

Open GoogleCodeExporter opened 8 years ago

GoogleCodeExporter commented 8 years ago 
At the moment, the ontology assumes that there are two copies of each allele. 
This is not necessarily the case for some pharmacogenetic alleles, where copy 
number variation is relatively common and has significant clinical impact (e.g. 
CYP2D6).

This feature can easily be added by changing the cardinality restrictions for 
these cases.

Original issue reported on code.google.com by matthias...@gmail.com on 9 Nov 2012 at 10:06

GoogleCodeExporter commented 8 years ago

Original comment by matthias...@gmail.com on 9 Nov 2012 at 1:23

GoogleCodeExporter commented 8 years ago 
To implement this, the script for generating genomic CDS needs additional 
information about alleles that can have copy number variations. For these 
alleles, the default assumption that every allele is present twice does not 
hold. Matthias will add this information in an extra sheet in 'haplotype 
spreadsheet.xlsx'.

Original comment by matthias...@gmail.com on 2 Aug 2013 at 1:54