add p. and g. descriptions to feature records
ahwagner opened this issue · comments
From review:
It is unclear in the manuscript how much integration was achieved. For instance, page 4 describes several ERBB2 mutations described differently but all having identical consequence. Were these varied annotations reduced to one standard syntax across all partner databases, or was this an illustration of the complexity of such an attempt? Looking for each of the three stated "p." syntaxes (p.E770delinsEAYVM, p.M774insAYVM, and p.A775_G776insYVMA) on the website resulted in only one hit (the last one, with only one count), so the result of any integration attempt is unclear here. Similar clarification could be brought to the section on Disease Ontology (TopeNode, page 5), where disease terms were discussed with a lack of the precision required to support investigations across specialized disease forms.
We should just add the g. and p. representations provided by clingen allele registry. Should sufficiently address.
merging this issue with #129