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Figure 3 | Genome Medicine

Figure 3

From: Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

Figure 3

Integrative Genomics Viewer screen shots of the RNA-Seq data on three subjects from two families. The RNA-Seq experiments were performed using RNAs extracted from lymphoblastoid cell lines. The results validated the presence of a splice variant at the exon-intron boundary in the proband from family 2 (subject II-3), and that the intronic regions are transcribed between exon 5 and exon 6. However, the variant is not present in family 1, and exons 5 and 6 are correctly spliced in two subjects (subjects II-1 and I-2) in family 1.

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