Ontology highlight
ABSTRACT:
SUBMITTER: Hong S
PROVIDER: S-EPMC6251617 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
Hong Sungkook S Hu Ping P Roessler Erich E Hu Tommy T Muenke Maximilian M
Human molecular genetics 20180601 11
The utilization of next generation sequencing has been shown to accelerate gene discovery in human disease. However, our confidence in the correct disease-associations of rare variants continues to depend on functional analysis. Here, we employ a sensitive assay of human FGF8 variants in zebrafish to demonstrate that the spectrum of isoforms of FGF8 produced by alternative splicing can provide key insights into the genetic susceptibility to human malformations. In addition, we describe novel mut ...[more]