Personalised analytics for rare disease diagnostics

Genome sequencing is being widely adopted for diagnosis of genetic diseases, but identifying the causal variants remains challenging. Here, the authors introduce a tool that incorporates tissue-specific gene expression data into predicting variant pathogenicity, improving accuracy.

Abstract licence: CC BY-NC-ND

• CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores · 2021

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