AIMC Topic: Child Development Disorders, Pervasive

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RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Science (New York, N.Y.) Dec 18, 2014
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...
Humans Artificial Intelligence Computer Simulation Genome-Wide Association Study Polymorphism, Single Nucleotide RNA-Binding Proteins Models, Genetic Nuclear Proteins Adaptor Proteins, Signal Transducing DNA Genetic Markers Genetic Variation Molecular Sequence Annotation Introns Mutation, Missense Quantitative Trait Loci RNA Splicing Child Development Disorders, Pervasive Colorectal Neoplasms, Hereditary Nonpolyposis Muscular Atrophy, Spinal Exons Genetic Code MutL Protein Homolog 1 RNA Splice Sites
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Genetic variation and alternative splicing.

Nature biotechnology Apr 1, 2015
Humans Artificial Intelligence Genome-Wide Association Study Molecular Sequence Annotation RNA Splicing Child Development Disorders, Pervasive Colorectal Neoplasms, Hereditary Nonpolyposis Muscular Atrophy, Spinal
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RNA. Prescribing splicing.

Science (New York, N.Y.) Jan 9, 2015
Prescribing splicing
Humans Artificial Intelligence Genome-Wide Association Study Molecular Sequence Annotation RNA Splicing Child Development Disorders, Pervasive Colorectal Neoplasms, Hereditary Nonpolyposis Muscular Atrophy, Spinal
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