Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)

Figure 2

Whole Exome Sequencing analysis. Whole Exome Sequencing was completed at Personalis and variants were detected using their ACE Clinical Exome Pipeline. Variants were filtered by Personalis as described above, first with the elimination of variants with poor quality and >1% frequency. Then, variants were sorted based on inheritance pattern (AD: autosomal dominant, AR: autosomal recessive, XL: X-linked, mt: mitochondria, and YL: Y-linked) and variants were kept if the gene matched the phenotype. The variants that were the best matches after manual review were reported. Four variants in three genes (HINT1, PGAM2, and DYSF) passed all filtering steps. Two variants were detected in DYSF and information regarding the variants is described in Table 1.