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macbeee / genomic-cds

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Add an alternative version of the Genomic CDS ontology and system that is capable of interpreting results from next-gen sequencing #9

Closed GoogleCodeExporter closed 8 years ago

GoogleCodeExporter commented 8 years ago 
The current ontology as well as the safety-code.org system are optimized for 
microarray results (similar to 23andMe). 
However, there are other genetic tests based on sequencing that produce 
different results. The main differences are that: 
* It is known on which of the two homologous copies of each chromosome certain 
variants are located. This makes it easier to infer alleles from SNPs, et 
cetera, since the problems of ambiguity and phasing are removed.
* Sequencing assays such as PGRNseq can also produce results at loci that are 
not (yet) registered by dbSNP. We should think of a mechanism of also including 
some data at arbitrary loci.

Original issue reported on code.google.com by matthias...@gmail.com on 5 Aug 2013 at 8:29

GoogleCodeExporter commented 8 years ago

Original comment by matthias...@gmail.com on 17 Apr 2014 at 6:43