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Article

Tissue-aware interpretation of genetic variants advances the etiology of rare diseases.

Molecular systems biology - 1 Nov 2024

Argov Chanan M, Shneyour Ariel, Jubran Juman, Sabag Eric, Mansbach Avigdor, Sepunaru Yair, Filtzer Emmi, Gruber Gil, Volozhinsky Miri, Yogev Yuval, Birk Ohad, Chalifa-Caspi Vered, Rokach Lior, Yeger-Lotem Esti

Abstract excerpt

Pathogenic variants underlying Mendelian diseases often disrupt the normal physiology of a few tissues and organs. However, variant effect prediction tools that aim to identify pathogenic variants are typically oblivious to tissue contexts. Here we report a machine-learning framework, denoted "Tissue Risk Assessment of Causality by Expression for variants" (TRACEvar, https://netbio.bgu.ac.il/TRACEvar/ ), that...

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Computational Biology
Genetic Predisposition to Disease
Genetic Variation
Machine Learning
Organ Specificity

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PMID: 39285047
DOI: 10.1038/s44320-024-00061-6
PMCID: PMC11535248

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