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. Author manuscript; available in PMC: 2022 Aug 1.
Published in final edited form as: J Med Genet. 2021 Nov 5;59(8):748–758. doi: 10.1136/jmedgenet-2021-107902

Figure 2.

Figure 2

Pathway to diagnoses or strong candidate diagnoses after entry into the UDP-Vic

Figure 2 shows the investigations that reached a diagnosis or strong candidate diagnosis in the cohort of 150 families enrolled in the UDP-Vic. Note that six families who had undergone family ES prior to enrolment in the UDP underwent family GS and RNA-seq directly, rather than repeated family ES within the UDP-Vic. Research-based sequencing was performed at the Broad CMG. *High-resolution CMAs were used before, alongside, or after investigations at The Broad CMG, therefore this testing option is not placed in connection with other testing options. However, the two families that reached a molecular diagnosis via high-resolution CMA both occur after a negative family ES result prior to the implementation of CNV calling within the family ES pipeline. Abbreviations: UDP-Vic – Undiagnosed Diseases Program-Victoria; ES – exome sequencing; GS – genome sequencing; RNA-seq – Ribonucleic acid sequencing.