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opencb / biodata

Java library that models biological entities and their equivalents in different file formats typically used in bioinformatics
Apache License 2.0
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Variant type hierarchy #12

Open cyenyxe opened 10 years ago

cyenyxe commented 10 years ago

The current hierarchy of variant types is pretty simple and flat. We could make it more detailed by adding more levels to it, for instance, an indel may be an insertion or deletion.

imedina commented 9 years ago

In biology terms and INDEL is different form an INS or DEL. I agree a more detailed variant type should be provided, after looking at http://www.sequenceontology.org/browser/current_svn/term/SO:0001059 a simple proposal with only two levels could be: