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  • Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation

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Genetics and genomics
Protocol
Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation

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Hayeems RZ, Bernier F, Boycott KM, et al
Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation
BMJ Open 2022;12:e061468. doi: 10.1136/bmjopen-2022-061468