Table 5.

Challenging variant identification

Gene	Expected variant (genomic nomenclature)	IR™ normal workflow	IR™ deletion workflow	NextGENe®
KIT	c.1655_1660del		●
	c.1728_1766dup
	c.1726_1731dup	●	●	●
	c.1656_1676del			●
PDGFRA	c.2526_2537del			●

One of five variants was identified by IR^™ routine workflow; an additional variant was identified by the IR^™ deletion workflow. Three variants were identified by NextGENe® (SoftGenetics®) analysis, two of which had not previously been identified by either IR^™ workflows