Scalable Functional Assays for the Interpretation of Human Genetic Variation.
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DOI: 10.1146/annurev-genet-072920-032107
Abstract: Scalable sequence-function studies have enabled the systematic study and cataloging of hundreds of thousands of coding and noncoding genetic variants in the human genome. This has improved clinical variant interpretation and provided insights into the… read more here.
Keywords: interpretation human; interpretation; functional assays; scalable functional ... See more keywords