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Supplemental Information

NGS coverage analysis metrics

Whole exome sequencing coverage analysis metrics for each case.

DOI: 10.7287/peerj.preprints.1811v1/supp-1

Additional Information

Competing Interests

The authors declare that they have no competing interests.

Author Contributions

Constantinos Pangalos conceived and designed the experiments, analyzed the data, wrote the paper, prepared figures and/or tables, reviewed drafts of the paper.

Birgitta Hagnefelt performed the experiments.

Konstantinos Lilakos performed the experiments.

Christopher Konialis conceived and designed the experiments, performed the experiments, analyzed the data, wrote the paper, prepared figures and/or tables, reviewed drafts of the paper.

Human Ethics

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

This is not a research study on human participants. Cases presented in the study involve results obtained following clinical diagnostic testing and therefore do not require approval by an Institutional Review Board. In all cases mandatory pre-test genetic counseling was provided initially by the referring physician and subsequently in-house, where all patients were counseled specifically on all aspects of the genomic testing to be performed and provided their informed consent.

Data Deposition

The following information was supplied regarding data availability:

The raw sequencing data is too large to be made available online. Please cosult uploaded Fetalis variants data for each case (Case 1 to Case 14).

https://figshare.com/s/548f76f45727396447cf

Funding

Constantinos Pangalos, Christopher Konialis and Birgitta Hagnefelt are currently employed by InterGenetics. Constantinos Pangalos and Christopher Konialis receive a salary from Genomis Ltd.


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