Congratulations to Dr. Bryn Webb and her colleagues for their recent publication in Nature Genetics! The paper, titled “Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis”, can be read here. This paper is an early example of using whole genome sequencing to define the pathogenesis of rare, unsolved genetic disease and serves as an example of how to move forward to elucidate genetic mechanism in noncoding regions with coupling of a hypotheses with very detailed studies to define pathogenesis.
