Article

Single cell sequencing as a general variant interpretation assay

2023-12-13

Abstract excerpt

The human genome contains ∼70 million possible protein-altering variants, the vast majority of which are of uncertain clinical significance. Closing this gap is essential for accurate diagnosis of disease-causing variants and understanding their mechanisms of action. Towards this goal, we developed a pooled perturbation approach combining saturation mutagenesis with single cell RNA sequencing to map the effects of...

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Identifiers and source

Literature Corpus work: 668847db-40b7-52e9-b08d-03760bba71a4
DOI: 10.1101/2023.12.12.571130

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