Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients.

McQuerry JA, Mclaird M, Hartin SN, Means JC, Johnston J, Pastinen T, Younger ST
Sci Rep. 2022 May 9;12(1):7576. doi: 10.1038/s41598-022-11589-8. PubMed Article

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