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Egyptian Journal of Medical Human Genetics
Fig. 1 | Egyptian Journal of Medical Human Genetics

Fig. 1

From: A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report

Fig. 1

Detail of the GeneSystem analysis platform in which the tertiary analysis and prioritization of variants was performed. a Variants identified in PTCH1 gene applying criteria of coverage > 10X and allectic frequency > 20%. b Summary of the characteristics of the identified variant. c IGV detail showing the region of the chromosome 9 gene where the identified nucleotide change variant G > T (complementary sequence C > A shown) is found in all analysed fragments, indicating good horizontal coverage

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