Condition: Undiagnosed Disease · Sponsor: University of Pittsburgh
This study is designed to utilize whole exome and whole genome sequencing techniques to identify underlying genetic causes for undiagnosed disorders in the Plain Communities, and to do population genetic studies looking at genetic drift and founder mutations in this unique population.
This description comes directly from the study's public registry record.
Cate Walsh Vockley, MS, LCGC · 412-692-7349 · catherine.walshvockley@chp.edu
Jenifer Baker, MA · 412-6926378 · jennifer.baker@chp.edu
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| Children's Hospital of Pittsburgh of UPMC | Pittsburgh, Pennsylvania, United States | Recruiting |
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Source record: clinicaltrials.gov/study/NCT02927158