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. Author manuscript; available in PMC: 2015 Apr 21.
Published in final edited form as: Clin Chem. 2014 Nov 20;61(1):213–220. doi: 10.1373/clinchem.2014.231456

Fig. 1. Overlap of low-coverage HGMD variant positions in 3 exome methods.

Fig. 1

The nucleotide positions of 18336 HGMD pathogenic variants in the 56 ACMG genes were examined for absence from the design of 3 exome capture kits (A). In addition, exome sequencing from the 3 kits was examined for low depth of coverage (<20×) of the 18336 HGMD pathogenic variants in at least half of the samples examined for each kit (B). SureSelect (n = 12), TargetSeq (n = 33), TruSeq (n = 12).