News Finding: New! Xing &amp; colleagues discuss recent advances in analyzing how genetic variation modulates alternative splicing &amp; influences phenotypic variability 
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: New! Xing &amp; colleagues discuss recent advances in analyzing how genetic variation modulates alternative splicing &amp; influences phenotypic variability 
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.