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(A) Proportion of families who underwent whole genome sequencing (WGS) and targeted gene panel testing seen through the ocular genetics service between November 2017 and September 2019 at MEH (Moorfields Eye Hospital NHS Foundation Trust). (B) Mutational spectrum of families with positive molecular findings. (C) Molecular diagnostic outcomes for WGS and targeted panel sequencing for the entire cohort. NPF = no primary findings.
