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A number of samples were included in additional projects performed to increase access to sequencing (ES, GS) and evaluate orthogonal methods for identifying the genetic basis of a rare disease presentation: RNA-seq, single-cell RNA-seq (scRNA-seq), long-read genome sequencing (LR-seq), high-depth exome sequencing to detect somatic mosaic variants (Deep-seq) and proteomics. This figure was created in Microsoft Excel.
