The overall diagnostic yield of the genomic testing will be calculated as the percentage of NYCKidSeq participants with definitive or likely positive diagnoses. Individual diagnostic yield will be calculated for WGS and TGP tests as well as by disease category (neurology, cardiology, immunology). We will also investigate the concordance between the two testing modalities. Lastly, we will assess the diagnostic yield of both tests among race/ethnic groups. Genomic testing result categorization for both testing modalities is maintained in the REDCap database.

Note: The content above has been extracted from a research article, so it may not display correctly.



Q&A
Please log in to submit your questions online.
Your question will be posted on the Bio-101 website. We will send your questions to the authors of this protocol and Bio-protocol community members who are experienced with this method. you will be informed using the email address associated with your Bio-protocol account.



We use cookies on this site to enhance your user experience. By using our website, you are agreeing to allow the storage of cookies on your computer.