Abstract: 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.

Abstract: Methods and systems for expanding a training set of one or more original biological sequences are provided. An original training set is obtained, wherein the original training set comprises one or more original biological sequences. Saliency values corresponding to one or more elements in each of the one or more original biological sequences are obtained. For each of the original biological sequences, one or more modified biological sequences are produced and the one or more modified biological sequences are associated with the original biological sequence. One or more elements are generated in each of the one or more modified biological sequences using one or more elements in the associated original biological sequence and the corresponding saliency values. The one or more modified biological sequences for each of the original biological sequences are added to the original training set to form an expanded training set.

Abstract: 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.

Abstract: 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.

Abstract: Methods and systems for expanding a training set of one or more original biological sequences are provided. An original training set is obtained, wherein the original training set comprises one or more original biological sequences. Saliency values corresponding to one or more elements in each of the one or more original biological sequences are obtained. For each of the original biological sequences, one or more modified biological sequences are produced and the one or more modified biological sequences are associated with the original biological sequence. One or more elements are generated in each of the one or more modified biological sequences using one or more elements in the associated original biological sequence and the corresponding saliency values. The one or more modified biological sequences for each of the original biological sequences are added to the original training set to form an expanded training set.

Abstract: 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.

Abstract: 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.