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. Author manuscript; available in PMC: 2019 Feb 7.
Published in final edited form as: Am J Hematol. 2017 Oct 20;93(1):8–16. doi: 10.1002/ajh.24917

FIGURE 2.

FIGURE 2

Molecular diagnostic yield using ES in IPD cohort as well as mode of inheritance. (A) Percentage displayed in each column represents the percentage of each diagnosis type from the total IPD cohort (n = 21 patients). Negative represents no suspected disease-causing variants or only likely benign / benign variants; Uncertain represents only variants of uncertain significance (VUS); Positive represents pathogenic or likely pathogenic variants consistent with disease inheritance pattern. (B) Mechanism of inheritance in patients with positive molecular diagnosis (n = 5 patients). AD, autosomal dominant; AR, autosomal recessive; Hom, homozygous; Comp het, compound heterozygous [Color figure can be viewed at wileyonlinelibrary.com]