RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders
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DOI: 10.1136/jmedgenet-2021-108013
Abstract: Background Numerous variants of uncertain significance (VUSs) have been identified by whole exome sequencing in clinical practice. However, VUSs are not currently considered medically actionable. Objective To assess the splicing patterns of 49 VUSs in… read more here.
Keywords: rna splicing; splicing analysis; diagnosis; analysis ... See more keywords