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

Introduction Despite the superior diagnostic performance of exome and genome sequencing compared with conventional genetic tests, evidence gaps related to clinical utility and cost effectiveness have limited their availability in routine clinical practice in many jurisdictions.To inform adoption and reimbursement policy, this protocol provides a ch

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Effect of a single-session mindfulness-based intervention for reducing stress in family caregivers of people with dementia: study protocol for a randomized controlled trial

Abstract Background Caregiver stress can pose serious health and psychological concerns, highlighting the importance of timely interventions for family caregivers of people with dementia.Single-session mindfulness-based interventions could be a promising yet under-researched approach to enhancing their mental well-being within their unpredictable,

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