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A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.

2022-01-31 genetic and genomic medicine Title + abstract only
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Genomic variants which disrupt splicing are a major cause of rare genetic disease. However, variants which lie outside of the canonical splice sites are difficult to interpret clinically. Here, we examine the landscape of splicing variants in whole-genome sequencing data from 38,688 individuals in the 100,000 Genomes Project, and assess the contribution of non-canonical splicing variants to rare genetic diseases. We show that splicing branchpoints are highly constrained by purifying selection, a...

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