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

Abstract

18The accurate clinical interpretation of human sequence variation is foundational to 19 personalized medicine. This remains a pressing challenge, however, as genome 20 sequencing becomes routine and new functionally undefined variants rapidly 21 accumulate. Here, we describe a platform for the rapid generation, characterization and 22 this study has focused on modelling NPC, the outlined approach could be translated 37 widely and applied to a variety of genetic disorders or understanding the pathogenicity 38 of somatic mutations in cancer. 39 40 Reference Sequence: NG_012795.1 NPC1: g.54927_54954del], resulting in a frame-132