Toward a clinical diagnostic pipeline for SPINK1 intronic variants.

ABSTRACT:

Background

The clinical significance of SPINK1 intronic variants in chronic pancreatitis has been previously assessed by various approaches including a cell culture-based full-length gene assay. A close correlation between the results of this assay and in silico splicing prediction was apparent. However, until now, a clinical diagnostic pipeline specifically designed to classify SPINK1 intronic variants accurately and efficiently has been lacking. Herein, we present just such a pipeline and explore its efficacy and potential utility in potentiating the classification of newly described SPINK1 intronic variants.

Results

We confirm a close correlation between in silico splicing prediction and results from the cell culture-based full-length gene assay in the context of three re

SUBMITTER: Tang XY 

PROVIDER: S-EPMC6373104 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature