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A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods

2023-07-06 genetic and genomic medicine Title + abstract only
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Background/ObjectivesCanonical splice site variants (CSSVs) are often presumed to cause loss-of-function (LoF) and are assigned very strong evidence of pathogenicity (according to ACMG criterion PVS1). However, the exact nature and predictability of splicing effects of unselected rare CSSVs in blood-expressed genes is poorly understood. MethodsA total of 184 rare CSSVs in unselected blood-expressed genes were identified by genome sequencing in 121 individuals, and their impact on splicing was i...

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