Not getting the correct UD slice when a gene symbol has changed
Created by: mutalyzerbot
Original ticket: https://humgenprojects.lumc.nl/trac/mutalyzer/ticket/138 Original date: 2013/06/04 Original reporter: I DOT F DOT A DOT C DOT Fokkema AND LUMC DOT nl
After discussing this with Martijn previously and today with Jeroen, hereby a summary of the decisions made (no timeline provided):
- LOVD will move to use NGs and LRGs as much as possible for transcript information and the name checker, to reduce the use of UD slices.
- When an NC slice is requested using the gene symbol, and the file is already in the cache, Mutalyzer will check if the requested gene is found in the file. If not, Mutalyzer will re-download the slice and assign a new UD number. The two can be kept apart using the gene symbol, or perhaps by including the md5 in the PK of the database table guarding the UD cache.
- The Mutalyzer position converter will need to be able to handle changed gene symbols also, allowing the old gene symbol to keep functioning. Perhaps when noticing the gene symbol has changed, insert a new entry and keeping the previous mapping information intact. Whether or not both entries will be updated when there is new exon positions known, has not been decided.
Thanks & regards,
Ivo