Current Research Studies

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?

Please contact the study team listed below to learn more.

Study Team: