News Finding: For more about the new center, see this article on the CHOP Research Institute blog.
Paper Finding: Many of these variants are associated with GWAS signals, suggesting a ubiquitous contribution of alternative splicing to phenotypic variability and disease susceptibility in human populations.
News Context: Working in a large pediatric hospital, he says he will apply his expertise in investigating the underexplored roles of RNA defects to help drive new discoveries in children's health. "We are excited that he and his team will enhance one of our core missions--using collaborative data to benefit children and families worldwide." For more about the new center, see this article on the CHOP Research Institute blog.
Paper Context: Thus, this study offers an important proof of concept that alternative splicing analysis via the integration of RNA-seq with exome or genome sequencing improves disease diagnosis. Many of these variants are associated with GWAS signals, suggesting a ubiquitous contribution of alternative splicing to phenotypic variability and disease susceptibility in human populations. These genetically regulated, GWAS-associated mRNA isoforms are prime candidates for functional studies of alternative splicing.