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NEURAL NETWORK ARCHITECTURES FOR LINKING BIOLOGICAL SEQUENCE VARIANTS BASED ON MOLECULAR PHENOTYPE, AND SYSTEMS AND METHODS THEREFOR
NEURAL NETWORK ARCHITECTURES FOR LINKING BIOLOGICAL SEQUENCE VARIANTS BASED ON MOLECULAR PHENOTYPE, AND SYSTEMS AND METHODS THEREFOR
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机译:基于分子表型的生物序列变量的神经网络体系结构,系统和方法
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摘要
Described herein are systems and methods that receive as input a DNA or RNA sequence, extract features, and apply layers of processing units to compute one ore more condition-specific cell variables, corresponding to cellular quantities measured under different conditions. The system may be applied to a sequence containing a genetic variant, and also to a corresponding reference sequence to determine how much the condition-specific cell variables change because of the variant. The change in the condition-specific cell variables are used to compute a score for how deleterious a variant is, to classify a variant's level of deleteriousness, to prioritize variants for subsequent processing, and to compare a test variant to variants of known deleteriousness. By modifying the variant or the extracted features so as to incorporate the effects of DNA editing, oligonucleotide therapy, DNA- or RNA-binding protein therapy or other therapies, the system may be used to determine if the deleterious effects of the original variant can be reduced.
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