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Fig. 1 | BMC Genomics

Fig. 1

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

Fig. 1

Premise for the creation of SUsPECT. (A) Some pathogenic variants may be missed without actual information about all alternative transcripts expressed in a relevant sample. A variant in a particular genomic position may be incorrectly predicted to be non-deleterious. (B) A variant at the same genomic position may cause a different missense variant in different transcript structures due to varying open reading frames per transcript

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BMC Genomics

ISSN: 1471-2164

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