%0 Journal Article
%T Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico
%A Alicia Scocchia
%A Andrew Gross
%A Carolina I. Galarreta
%A David R. Bentley
%A Denise L. Perry
%A Diane Masser-Frye
%A Erin Thorpe
%A ICSL Interpretation and Reporting Team
%A John W. Belmont
%A Julia McEachern
%A Keisha Robinson
%A Kristen M. Wigby
%A Marilyn C. Jones
%A Miguel Del Campo
%A Ryan J. Taft
%A Subramanian S. Ajay
%A Vani Rajan
%J Archive of "NPJ Genomic Medicine".
%D 2019
%R 10.1038/s41525-018-0076-1
%X Case selection criteria. Chart review of previously evaluated individuals was performed by the clinician team. Probands who were diagnosed with a recognizable pattern of malformation (e.g., isolated Down syndrome), received counseling, and discharged from clinic were excluded from referral to the iHope Program. Probands with acquired disease (e.g.,: suspected environmental exposures) or isolated features (e.g.,: individuals with cleft lip with or without cleft palate) were typically also excluded. Probands with prior non-diagnostic molecular or cytogenic testing were included if all other criteria were met. Resulting families who were eligible for the iHope Program were contacted, offered cWGS, and scheduled to attend a Genome Day. Upon completion of a Genome Day visit, whole-blood samples were transported to the clinical laboratory for cWGS. Dx: diagnosis; cWGS: clinical whole genome sequencin
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375919/