TY - JOUR AU - Tang, Xin-Ying AU - Lin, Jin-Huan AU - Zou, Wen-Bin AU - Masson, Emmanuelle AU - Boulling, Arnaud AU - Deng, Shun-Jiang AU - Cooper, David N. AU - Liao, Zhuan AU - FĂ©rec, Claude AU - Li, Zhao-Shen AU - Chen, Jian-Min PY - 2019 DA - 2019/02/12 TI - Toward a clinical diagnostic pipeline for SPINK1 intronic variants JO - Human Genomics SP - 8 VL - 13 IS - 1 AB - 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. SN - 1479-7364 UR - https://doi.org/10.1186/s40246-019-0193-7 DO - 10.1186/s40246-019-0193-7 ID - Tang2019 ER -