IPhemap: an atlas of phenotype to genotype relationships of human iPSC models of neurological diseases.

ABSTRACT: Disease modeling with induced pluripotent stem cells (iPSCs) is creating an abundance of phenotypic information that has become difficult to follow and interpret. Here, we report a systematic analysis of research practices and reporting bias in neurological disease models from 93 published articles. We find heterogeneity in current research practices and a reporting bias toward certain diseases. Moreover, we identified 663 CNS cell-derived phenotypes from 243 patients and 214 controls, which varied by mutation type and developmental stage in vitro We clustered these phenotypes into a taxonomy and characterized these phenotype-genotype relationships to generate a phenogenetic map that revealed novel correlations among previously unrelated genes. We also find that alterations in patie

SUBMITTER: Hollingsworth EW 

PROVIDER: S-EPMC5731211 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature