A tissue-aware machine learning framework enhances the mechanistic understanding and genetic diagnosis of Mendelian and rare diseases
Eyal Simonovsky, Moran Sharon, Maya Ziv, Omry Mauer, Idan Hekselman, Juman Jubran, Ekaterina Vinogradov, Chanan M Argov, Omer Basha, Lior Kerber, Yuval Yogev, Ayellet V. Segrè, Hae Kyung Im, Ohad S. Birk, Lior Rokach, 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.
Molecular Systems Biology · May 26, 2023Peer-reviewedGenetics