Genetic & Genomic MedicineScientific ReportsPeer-reviewed
Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients
Jasmine A. McQuerry, Merry Mclaird, Samantha N. Hartin…·Scott T. Younger
The paper identifies functionally consequential noncoding variants in undiagnosed rare disease patients using a massively parallel reporter assay and integrative analysis.
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