GeneticsMolecular Systems BiologyPeer-reviewed
A tissue-aware machine learning framework enhances the mechanistic understanding and genetic diagnosis of Mendelian and rare diseases
Eyal Simonovsky, Moran Sharon, Maya Ziv…·Esti Yeger‐Lotem
This paper introduces a tissue-aware machine learning framework to improve understanding and diagnosis of Mendelian and rare diseases by leveraging tissue-specific gene mechanisms.
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