Article

Modelling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation

2019-10-10

Abstract excerpt

The accurate clinical interpretation of human sequence variation is foundational to personalized medicine. This remains a pressing challenge, however, as genome sequencing becomes routine and new functionally undefined variants rapidly accumulate. Here, we describe a platform for the rapid generation, characterization and interpretation of genomic variants in haploid cells focusing on Niemann-Pick disease type C (...

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Literature Corpus work: 854cb607-7b34-510d-bd57-43672b2a2387
DOI: 10.1101/801019

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