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We then perform WES for 24 samples including matched cfDNA and bone marrow biopsies from nine patients and matched cfDNA, CTCs, and bone marrow biopsies from an additional four patients.
We carried out WES for a patient presenting with permanent NDM, for whom mutations in KCNJ11, ABCC8 and INS and abnormalities in chromosome 6q24 had been previously excluded.
Although not the primary objective, we investigated the utility of WES for pharmacogenetic analysis for 12 samples in the cohort because these data were available.
We also explored the utility of WES for this purpose, recognizing that, given exome hybridization methods generally capture ~1%% of the genome, the number of variants ascertained could preclude reliable genetic mapping.
We also confirmed the value of WES for the identification of disease-causing genes even in single patients presenting heterogeneous clinical syndromes but with a biochemically detectable "mitochondrial signature".
We report here the diagnostic yield of WES for the subset of FORGE patients with a phenotypic description of cerebellar ataxia.
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