Routine exome sequencing (ES) in individuals with neurodevelopmental disorders (NDD) remains inconclusive in >50% of the cases. Research analysis of unsolved cases can identify novel candidate genes but is time-consuming, subjective, and hard to compare between labs. The field, therefore, requires automated and standardized assessment methods to prioritize candidates for matchmaking.

中文翻译：

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AutoCaSc：优先考虑神经发育障碍的候选基因

在超过 50% 的病例中，神经发育障碍 (NDD) 患者的常规外显子组测序 (ES) 仍不确定。对未解决案例的研究分析可以识别新的候选基因，但耗时、主观且难以在实验室之间进行比较。因此，该领域需要自动化和标准化的评估方法来确定配对候选人的优先级。