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  1. Article

    Open Access

    Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants

    Single-nucleotide variants (SNVs) within gene coding sequences can significantly impact pre-mRNA splicing, bearing profound implications for pathogenic mechanisms and precision medicine. In this study, we aim ...

    Hao Wu, **-Huan Lin, **n-Ying Tang, Gaëlle Marenne, Wen-Bin Zou… in Human Genomics (2024)

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  2. Article

    Open Access

    Expanding ACMG variant classification guidelines into a general framework

    The American College of Medical Genetics and Genomics (ACMG)-recommended five variant classification categories (pathogenic, likely pathogenic, uncertain significance, likely benign, and benign) have been wide...

    Emmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, David N. Cooper… in Human Genomics (2022)

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