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Updated: May 2, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Published on: June 23, 2012

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简单的PSAP:一个集成的工作流程,从单个个体的序列数据中优先考虑致病变异

Marie-Sophie C Ogloblinsky, Marc B Gros-La-Faige, Daniel P Lewinsohn

    Human heredity
    |June 10, 2025
    PubMed
    概括

    简单的PSAP增强了使用下一代测序 (NGS) 数据进行临床遗传诊断的变异优先级. 这种工具有效地对病原性遗传变异进行排名,有助于诊断遗传疾病.

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