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

Autor: Argov CM; Department of Clinical Biochemistry and Pharmacology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, 84105, Israel., Shneyour A; Department of Clinical Biochemistry and Pharmacology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, 84105, Israel., Jubran J; Department of Clinical Biochemistry and Pharmacology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, 84105, Israel., Sabag E; Department of Clinical Biochemistry and Pharmacology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, 84105, Israel., Mansbach A; Department of Clinical Biochemistry and Pharmacology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, 84105, Israel., Sepunaru Y; Department of Clinical Biochemistry and Pharmacology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, 84105, Israel., Filtzer E; Department of Clinical Biochemistry and Pharmacology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, 84105, Israel., Gruber G; Department of Clinical Biochemistry and Pharmacology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, 84105, Israel., Volozhinsky M; Department of Clinical Biochemistry and Pharmacology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, 84105, Israel., Yogev Y; Morris Kahn Laboratory of Human Genetics and the Genetics Institute at Soroka Medical Center, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, 84105, Israel., Birk O; Morris Kahn Laboratory of Human Genetics and the Genetics Institute at Soroka Medical Center, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, 84105, Israel.; The National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer Sheva, 84105, Israel., Chalifa-Caspi V; Ilse Katz Institute for Nanoscale Science & Technology, Ben-Gurion University of the Negev, Beer-Sheva, 84105, Israel., Rokach L; Department of Software & Information Systems Engineering, Faculty of Engineering Sciences, Ben-Gurion University of the Negev, Beer Sheva, 84105, Israel., Yeger-Lotem E; Department of Clinical Biochemistry and Pharmacology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, 84105, Israel. estiyl@bgu.ac.il.; The National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer Sheva, 84105, Israel. estiyl@bgu.ac.il.

Publikováno v: Molecular systems biology [Mol Syst Biol] 2024 Nov; Vol. 20 (11), pp. 1187-1206. Date of Electronic Publication: 2024 Sep 16.