Funding for this research was provided by:
National Human Genome Research Institute (R01-HG009708, U01- HG006546)
Text and Data Mining valid from 2020-01-30
Received: 31 October 2019
Accepted: 13 January 2020
First Online: 30 January 2020
Ethics approval and consent to participate
: The research presented was performed under the principles of the Helsinki Declaration. ES and SNP array datasets were generated during routine clinical diagnosis and analyzed as part of a process improvement program within the Genomics Diagnostics Laboratory (GDL) at the Children’s Hospital of Philadelphia (CHOP); accordingly, the Institutional Review Board at CHOP has waived the requirement for written patient consent. Five patients, from whom WGS data was obtained, were enrolled under an IRB-approved research protocol (CHOP IRB# 16-013231).
: Not applicable.
: The authors declare that they have no competing interests.