Search Results - chandra+theesfeld

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DeepSEA and Seqweaver: Deep learning frameworks for the identification of de novo disease-causing mutations in noncoding sequences

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: 4/23/2024   |   Inventor(s): Jian Zhou, Olga Troyanskaya, Christopher Park, Robert Darnell, Chandra Theesfeld
Keywords(s):  
Category(s): Computer Science and Information Technology

Predicting Genomic Variation Effects on Human Gene Transcription

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: 1/24/2025   |   Inventor(s): Olga Troyanskaya, Jian Zhou, Chandra Theesfeld
Keywords(s):  
Category(s): Biotechnology/Pharmaceuticals, Computer Science and Information Technology