发明名称 |
SYSTEMS AND METHODS FOR CLASSIFYING, PROIRITIZING AND INTERPRETING GENETIC VARIANTS AND THERAPIES USING A DEEP NEURAL NETWORK |
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. |
申请公布号 |
CA2894317(A1) |
申请公布日期 |
2016.12.15 |
申请号 |
CA20152894317 |
申请日期 |
2015.06.15 |
申请人 |
DEEP GENOMICS INCORPORATED |
发明人 |
FREY, BRENDAN;LEUNG, MICHAEL K.K.;DELONG, ANDREW THOMAS;XIONG, HUI YUAN;ALIPANAHI, BABAK;LEE, LEO J.;BRETSCHNEIDER, HANNES |
分类号 |
G06F19/12;C12Q1/68;G06F19/10;G06F19/18;G06F19/24 |
主分类号 |
G06F19/12 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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