Predicting the functional effect of compound heterozygous genotypes from large scale variant effect maps.
Michael J XieGareth A CromieKatherine OwensMartin S TimourMichelle TangJ Nathan KutzAyman W El-HattabRichard N McLaughlinAimeé M DudleyPublished in: bioRxiv : the preprint server for biology (2023)
Taken together, our work provides an example of how large-scale functional assays in model systems can be powerfully applied to the study of a rare disease.
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