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Identification of missing genetic variants in structural birth defects
Missing genetic variants in SBD
What is the goal of the study?
Current methods of genetic testing do not provide a comprehensive view of genetic variation, based on limitations of DNA sequencing test. These limitations, which are based on the technology (short-read based sequencing) and the tissue (blood) utilized, mean that there is genetic variation currently "hidden" from our detection. We will apply novel methods of genetic analysis, using long-read sequencing and tissue based "mosaic" sequencing, in patients at Seattle Childrens with structural birth defects who have had non-diagnostic routine genetic testing
Who can participate in the study?
Everyone