Trust in standards: Transitioning clinical exome sequencing from bench to bedside

Abstract excerpt

Clinical exome sequencing is a genetic technology making the transition from a laboratory research tool to a routine clinical technique used to diagnose patients. Standards help make this transition by offering authoritative shortcuts for time-intensive tasks, but each shortcut means that something is lost during abstraction. In clinical exome sequencing, reliance on standards may obscure the match between a...

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