[GET-dev] autoscore bug?

Kimberly Robasky krobasky at gmail.com
Fri May 21 10:36:11 EDT 2010


So Abraham says stop codons get NBLOSUM = 10, and if that's true, then
stop codon mutations should get at least 1 point in autoscore, right?
That means the following counsyl variants weren't scored correctly:

gene	aa_from	aa_pos	aa_to	variant_id	autoscore
ALDOB	Tyr	204	Stop	84333	0
BCKDHB	Glu	322	Stop	84337	0
HFE	Glu	168	Stop	84385	0
HFE	Trp	169	Stop	84386	0
PYGM	Lys	542	Stop	84394	0
PYGM	Arg	49	Stop	84395	0




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