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Fig. 1 | Molecular Medicine

Fig. 1

From: Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics

Fig. 1

Massively parallel genomic assays for profiling genetic variants. a Assay design for profiling the impact of genetic variants on gene expression. b Representative experimental results for a rare genetic variant that alters gene expression in a reporter assay. c Genomic location of rare variant profiled in (b). d Assay design for profiling the impact of genetic variants on RNA splicing. e Representative experimental results for a rare genetic variant that alters exon inclusion in a splicing assay. f Genomic location of rare variant profiled in (e)

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