Current Research Studies

Identification of missing genetic variants in structural birth defects

Missing genetic variants in SBD

Condition(s): Other
Phase: N/A

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:

PI (Study Doctor): James Bennett
Study Team Member: Zoe Nelson, Zoe.Nelson@seattlechildrens.org

Seattle Children’s complies with applicable federal and other civil rights laws and does not discriminate, exclude people or treat them differently based on race, color, religion (creed), sex, gender identity or expression, sexual orientation, national origin (ancestry), age, disability, or any other status protected by applicable federal, state or local law. Financial assistance for medically necessary services is based on family income and hospital resources and is provided to children under age 21 whose primary residence is in Washington, Alaska, Montana or Idaho.