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Additional Information

Competing Interests

All authors are employees and shareholders of Counsyl Inc.

Author Contributions

Hyunseok P. Kang conceived and designed the experiments, analyzed the data, wrote the paper, prepared figures and/or tables, reviewed drafts of the paper.

Jared R Maguire analyzed the data, contributed reagents/materials/analysis tools, reviewed drafts of the paper.

Clement S Chu conceived and designed the experiments, performed the experiments, contributed reagents/materials/analysis tools, reviewed drafts of the paper.

Imran S. Haque analyzed the data, contributed reagents/materials/analysis tools, wrote the paper, reviewed drafts of the paper.

Henry Lai performed the experiments, contributed reagents/materials/analysis tools, reviewed drafts of the paper.

Rebecca Mar-Heyming analyzed the data, reviewed drafts of the paper.

Kaylene Ready conceived and designed the experiments, wrote the paper, prepared figures and/or tables, reviewed drafts of the paper.

Valentina S. Vysotskaia wrote the paper, reviewed drafts of the paper.

Eric A. Evans conceived and designed the experiments, analyzed the data, reviewed drafts of the paper.

Human Ethics

The following information was supplied relating to ethical approvals (i.e., approving body and any reference numbers):

Western Institutional Review Board (IRB number 1145639)

Data Deposition

The following information was supplied regarding data availability:

1) ClinVar

2) 320494

3) http://www.ncbi.nlm.nih.gov/clinvar/submitters/320494/

Funding

The authors received no funding for this work. No external funding was received. All authors are employed by Counsyl, and the manuscript describes the validation of a commercial genetic test.


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