White Papers

  • RNA Sequencing: Case Studies & Clinical Relevance
  • Clinical Indications for Transcriptome Testing

Accepted Abstracts and Posters


  • RNA Sequencing as a Complementary Diagnostic Tool to Traditional Sequencing Methods
  • The Role of Whole Genome Sequencing in Clinical Diagnosis


  • Complementary Test Methods Needed to Improve Clinical Sensitivity of Genetic Testing
  • RNA Sequencing: Improving Diagnostic and Therapeutic Outcomes for Genetic Testing
  • Combining Repeat Expansion Testing With NGS Phenotype Based Panels Provides Significant Diagnostic Benefits of NGS


  • Mitochondrial Genome Sequencing in Phenotype-Based Panels and Exome Sequencing Increases Test Sensitivity
  • Protocols to Keep NGS Gene Panels and Annotation Content Current
  • Single Exon Resolution Copy Number Analysis Significantly Increases Clinical Sensitivity of NGS


  • Coughlin, C.R., 2nd, et al., The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy. J Inherit Metab Dis, 2018.
  • Pan, L.A., et al., Neurometabolic Disorders: Potentially Treatable Abnormalities in Patients With Treatment-Refractory Depression and Suicidal Behavior. Am J Psychiatry, 2017. 174(1): p. 42-50. PMID: 27523499
  • Shoffner, J., et al., CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autism. Neurology, 2016. 86(24): p. 2258-63. PMID: 27178705
  • Fujioka, S., et al., A novel de novo pathogenic mutation in the CACNA1A gene. Mov Disord, 2012. 27(12): p. 1578-9.