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Fig. 3 | BMC Genomics

Fig. 3

From: SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation

Fig. 3

Two examples of ClinVar pathogenic variants being reannotated. Both variants were considered low severity variants when using hg38 reference transcriptome to annotate. (A) IFNGR1 whole view and close-up of region around the variant. Variant causes a stop-gain effect (K>*) in the custom transcript novelT001005410. (B) STAT1 whole view and close-up of region around variant. Variant causes a start loss (M > T) in the custom transcript novelT001115628

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BMC Genomics

ISSN: 1471-2164

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