Article

A tissue-aware machine learning framework enhances the mechanistic understanding and genetic diagnosis of Mendelian and rare diseases

2021-02-17

Abstract excerpt

<h4>ABSTRACT</h4> Genetic studies of Mendelian and rare diseases face the critical challenges of identifying pathogenic gene variants and their modes-of-action. Previous efforts rarely utilized the tissue-selective manifestation of these diseases for their elucidation. Here we introduce an interpretable machine learning (ML) platform that utilizes heterogeneous and large-scale tissue-aware datasets of human genes...

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Literature Corpus work: 600f5004-92f0-5f84-8d2c-ae713db9521f
DOI: 10.1101/2021.02.16.430825

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