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Rare variant association testing in the non-coding genome

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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

    Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

    Alzheimer’s disease (AD), the leading cause of dementia, has an estimated heritability of approximately 70%1. The genetic component of AD has been mainly assessed using genome-wide association studies, which do n...

    Henne Holstege, Marc Hulsman, Camille Charbonnier… in Nature Genetics (2022)

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  3. 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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