Layer, Chiang, et al. Genome Biology
Following Diagnostic Sequencing Success, MCW Creates Comprehensive Framework to Guide Future Cases
After MCW researchers used exome sequencing to provide a diagnosis for a 6-year-old boy with an extreme form of inflammatory bowel disease, the team put in place a broad program to support future clinical sequencing projects. The framework addresses a range of issues that surround diagnostic sequencing — from patient selection to analysis and interpretation, consent and data-sharing policies, and reimbursement.
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