Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients
Jasmine A. McQuerry, Merry Mclaird, Samantha N. Hartin, John C. Means, Jeffrey J. Johnston, Tomi Pastinen, Scott T. Younger
The paper identifies functionally consequential noncoding variants in undiagnosed rare disease patients using a massively parallel reporter assay and integrative analysis.
Scientific Reports · May 9, 2022Peer-reviewedGenetic & Genomic Medicine