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Child Development Disorders, Pervasive

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RNA. Prescribing splicing.

Science (New York, N.Y.) 25574005
Prescribing splicing
Artificial Intelligence Child Development Disorders, Pervasive Colorectal Neoplasms, Hereditary Nonpolyposis Genome-Wide Association Study Humans Molecular Sequence Annotation Muscular Atrophy, Spinal RNA Splicing
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RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Science (New York, N.Y.) 25525159
To facilitate precision medicine and whole-genome annotation, we developed a machine-learning technique that scores how strongly genetic variants affect RNA splicing, whose alteration contributes to many diseases. Analysis of more than 650,000 intron...
Adaptor Proteins, Signal Transducing Artificial Intelligence Child Development Disorders, Pervasive Colorectal Neoplasms, Hereditary Nonpolyposis Computer Simulation DNA Exons Genetic Code Genetic Markers Genetic Variation Genome-Wide Association Study Humans Introns Models, Genetic Molecular Sequence Annotation Muscular Atrophy, Spinal Mutation, Missense MutL Protein Homolog 1 Nuclear Proteins Polymorphism, Single Nucleotide Quantitative Trait Loci RNA Splice Sites RNA Splicing RNA-Binding Proteins
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Genetic variation and alternative splicing.

Nature biotechnology 25850059
Artificial Intelligence Child Development Disorders, Pervasive Colorectal Neoplasms, Hereditary Nonpolyposis Genome-Wide Association Study Humans Molecular Sequence Annotation Muscular Atrophy, Spinal RNA Splicing
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