2026 · Genetics in medicine open · open access
Study design with responsible return of results for a fully remote genome sequencing study in individuals with Prader-Willi syndrome
Vrana-Diaz et al.
The finding, in our words
This study demonstrated that a fully remote genome sequencing study using self-collected dried blood spots and buccal swabs is feasible for individuals with Prader-Willi syndrome, with all participants completing the study and reporting the process was easy despite being lengthy. The design successfully returned actionable genetic findings, including those related to blood clot formation, to participants.
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