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Systems and Methods for Analyzing Genetic Data for Assessment of GeneRegulatory Activity in Disease Prediction, Diagnosis and TreatmentPrinceton Docket # 21-3806Sequence is at the basis of how the genome and its variations shape chromatin organization, regulate gene expression, and impact traits and diseases. Epigenomic profiling efforts have enabled...
Published: 9/23/2022
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Inventor(s): Olga Troyanskaya, Kathleen Chen, Jian Zhou
Keywords(s):
Category(s): Biotechnology/Pharmaceuticals, Medical Devices/Diagnostics, Computers and Software
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DeepSEA and Seqweaver: Deep learning frameworks for the identification of de novo disease-causing mutations in noncoding sequencesPrinceton Docket #s 18-3426, 18-3440Researchers at Princeton University and Rockefeller University have collaborated to establish methods for the identification of de novo mutations in the vast noncoding genomic sequences....
Published: 11/9/2022
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Inventor(s): Jian Zhou, Olga Troyanskaya, Christopher Park, Robert Darnell, Chandra Theesfeld
Keywords(s):
Category(s): Computers and Software
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De novo prediction of tissue-specific expression effect and disease risk for every mutation in a human genome - ExpectoPrinceton Docket # 18-3423Sequence-based models, with their scalability and usage of sequence dependencies, enable a new era of mutation analysis at unprecedented scale that can yield a new perspective on human variation in human diseases...
Published: 9/26/2022
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Inventor(s): Olga Troyanskaya, Jian Zhou, Chandra Theesfeld
Keywords(s):
Category(s): Biotechnology/Pharmaceuticals, Computers and Software
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