Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Diagnosis of genetic disorders is hampered by large numbers of variants of uncertain significance (VUSs) identified through next-generation sequencing. Many such variants may disrupt normal RNA splicing. Diana Baralle discusses effects on splicing of a large cohort of clinically identified variants and compared performance of bioinformatic splicing prediction tools commonly used in diagnostic laboratories.

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Image courtesy of interviewee

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