1. Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration
    Powis Z, Hart A, et al.
    BMC Med Genet., 18(1):60 (2017)
    Exome sequencing with the xGen Exome Research Panel established a molecular genetic diagnosis of TARP syndrome for a neonatal patient in whom traditional testing methods were uninformative. Sequencing of the proband, mother, and father showed a previously unreported, maternally-inherited alteration in an RNA-binding motif protein.This allowed efficient diagnosis and future reproductive options for the parents. 
  2. Contribution of systemic and somatic factors to clinical response and resistance to PD-L1 blockade in urothelial cancer: an exploratory multi-omic analysis
    Snyder A, Nathanson T, et al.
    PLoS Medicine, 14(5):e1002309 (2017)

    26 paired samples (FFPE-derived tumor samples + frozen, PMBC-derived normal samples) were sequenced by exome hybrid capture using the xGen Exome Research Panel. RNA sequencing was also performed using the panel. The study demonstrates that improvements to the efficacy of immune-mobilizing therapies require the genetic profiling of both the tumor and immune system.