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G2P: Using machine learning to understand and predict genes causing rare neurological disorders

2018-03-27

Abstract excerpt

To facilitate precision medicine and neuroscience research, we developed a machine-learning technique that scores the likelihood that a gene, when mutated, will cause a neurological phenotype. We analysed 1126 genes relating to 25 subtypes of Mendelian neurological disease defined by Genomics England (March 2017) together with 154 gene-specific features capturing genetic variation, gene structure and tissue-specif...

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Literature Corpus work
e2899e6b-dcab-5bf5-bc64-5f76cebcdec5
DOI
10.1101/288845
Open publication

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G2P: Using machine learning to understand and predict genes causing rare neurological disordersDOI 10.1101/288845
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