Figure 1 | Genetics in Medicine

Figure 1

From: Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome

Figure 1

Alternative diagnostic pathways in EDS. (a) Yield of rare variants using traditional Sanger method (left) compared with the NGS panel (right). (b) Potential alternative clinical pathway to genetic diagnosis in EDS. Boxed numbers show the number of rare pathogenic variants and VUS identified in each group; percentages are the proportion of new pathogenic or likely pathogenic rare variants in our cohort of 177 EDS referrals. “Other” genetic abnormalities are those that were thought to underlie the EDS phenotype but are not covered by the NGS panel (three pathogenic variants in TNXB, FBN2, and FKBP14 and one large copy number variant; one VUS, a TNXB gene duplication). Dashed arrow indicates the potential for the NGS panel to become accessible to clinicians in secondary care. NGS, next-generation sequencing; EDS, Ehlers–Danlos syndrome; VUS, variants of uncertain significance.

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