GeneticsProceedings of the National Academy of SciencesPeer-reviewed
Genome-wide detection of human variants that disrupt intronic branchpoints
Peng Zhang, Quentin Philippot, Weicheng Ren…·Jean‐Laurent Casanova
The paper introduces BPHunter, a computational tool to detect intronic variants disrupting branchpoints, identifies known and novel mutations, and validates them experimentally.
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