Fig. 1
From: Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics
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)