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A deep learning-based framework for identifying sequence patterns that cause sequence-specific errors (SSEs)

机译:基于深度学习的框架,用于识别导致序列特定错误(SSE)的序列模式

摘要

The disclosed technique presents a deep learning-based framework that identifies sequence patterns that cause sequence-specific errors (SSEs). Systems and methods train variant filters on large variant data to learn the causal dependencies between sequence patterns and false variant calls. Variant filters have a hierarchical structure built on deep neural networks such as convolutional neural networks and fully coupled neural networks. Systems and methods use variant filters to perform simulations that test for known sequence patterns for their effect on variant filtering. The premise of the simulation is as follows. When a pair of tested repeat pattern and called variant is fed to the variant filter as part of the simulated input array and the variant filter classifies the called variant as an incorrect variant call, then It is possible that the iterative pattern was identified as causing a false variant call and causing SSE.
机译:公开的技术提出了一种基于深度学习的框架,该框架识别导致序列特定错误(SSE)的序列模式。系统和方法在大型变量数据上训练变量过滤器,以了解序列模式与错误的变量调用之间的因果关系。变型过滤器具有建立在深度神经网络(例如卷积神经网络和完全耦合神经网络)上的分层结构。系统和方法使用变体过滤器执行模拟,以测试已知序列模式对变体过滤的影响。模拟的前提如下。当一对经过测试的重复模式和被称为变体作为模拟输入数组的一部分输入到变体过滤器,并且变体过滤器将被叫变体归类为不正确的变体调用时,则可能会将迭代模式标识为导致了错误的变体调用并导致SSE。

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