Supplementary Materials

Supplementary Material for:

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

Sarah E. Soden,* Carol J. Saunders, Laurel K. Willig, Emily G. Farrow, Laurie D. Smith, Josh E. Petrikin, Jean-Baptiste LePichon, Neil A. Miller, Isabelle Thiffault, Darrell L. Dinwiddie, Greyson Twist, Aaron Noll, Bryce A. Heese, Lee Zellmer, Andrea M. Atherton, Ahmed T. Abdelmoity, Nicole Safina, Sarah S. Nyp, Britton Zuccarelli, Ingrid A. Larson, Ann Modrcin, Suzanne Herd, Mitchell Creed, Zhaohui Ye, Xuan Yuan, Robert A. Brodsky, Stephen F. Kingsmore

*Corresponding author. E-mail: ssoden{at}cmh.edu

Published 3 December 2014, Sci. Transl. Med. 6, 265ra168 (2014)
DOI: 10.1126/scitranslmed.3010076

This PDF file includes:

  • Fig. S1. Genome and exome coverage of MAGEL2 in patient CMH382.
  • Table S1. Genome and exome sequencing and variant metrics in NDD-affected children.
  • Table S2. Phenotype-to-gene mapping with the clinicopathologic software tool Phenomizer.
  • Table S3. Associations between clinical and familial characteristics and exome or genome diagnoses.
  • Table S4. Time to diagnosis and cost of prior etiologic clinical tests for children with NDD.
  • Table S5. Etiologic tests ordered before WGS/WES.
  • Table S6. Impact of genomic diagnosis on patient management.

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