Bug #506
open
Standardize gene names (correctly)
0%
Description
Some attempt at using standard gene names has occurred, but there's mistakes in the implementation -- there are cases when a name is both a standard name, and an alias that could point to a different standard name. The most conservative thing to do in these cases would be to accept the given name and not change it. One might also use the positions associated with gene names to distinguish between the two cases.
Right now it's been implemented incorrectly somewhere, resulting in gene names inconsistent with the position (in other words, moved to a new standard name when the old name was correct and standard).
The current GET-Evidence GJA9 L422F is a variant in ABT at chr1 39113094. According to genenames.org, this is both a standard name (to a gene on chr1) and an alias to another standard name, "GJD2" (on chr 15). So based on the position we can infer that "GJA9" is the correct, standard name for this.
But GET-Evidence incorrectly has this variant entered under GJD2: http://evidence.personalgenomes.org/GJD2-L422F
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