Predicting molecular mechanisms of hereditary diseases by using their tissue‐selective manifestation

Autor: 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, GTEx Consortium, Ohad Birk, Lior Rokach, Esti Yeger‐Lotem

Publikováno v: Molecular Systems Biology, Vol 19, Iss 8, Pp 1-20 (2023)

Abstract How do aberrations in widely expressed genes lead to tissue‐selective hereditary diseases? Previous attempts to answer this question were limited to testing a few candidate mechanisms. To answer this question at a larger scale, we develope

Externí odkaz: https://doaj.org/article/2f83bd8335064584b8465fdd36d265bc

Differential network analysis of multiple human tissue interactomes highlights tissue-selective processes and genetic disorder genes

Autor: Idan Hekselman, Chanan M Argov, Liad Alfandari, Raviv Artzy, Yazeed Zoabi, Omer Basha, Vered Chalifa-Caspi, Esti Yeger-Lotem

Publikováno v: Bioinformatics. 36:2821-2828

Motivation Differential network analysis, designed to highlight network changes between conditions, is an important paradigm in network biology. However, differential network analysis methods have been typically designed to compare between two condit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f211d9c462b63043b6ccd5e34f7a0c62
https://doi.org/10.1093/bioinformatics/btaa034

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

Autor: Hae Kyung Im, Lior Kerber, Eyal Simonovsky, Maya Ziv, Ekaterina Vinogradov, Ayellet V. Segrè, Juman Jubran, Lior Rokach, Yuval Yogev, Ohad S. Birk, Idan Hekselman, Omry Mauer, Moran Sharon, Omer Basha, Esti Yeger-Lotem, Chanan M Argov

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::51820c5a10fc70e3999ec659b9e8a8f0
https://doi.org/10.1101/2021.02.16.430825

A reference map of the human binary protein interactome

Autor: Eyal Simonovsky, Joseph C. Mellor, Amélie Dricot, Marc Vidal, Liana Goehring, Miquel Duran-Frigola, Florian Goebels, Dayag Sheykhkarimli, Thomas Rolland, Murat Tasan, John Rasla, Steffi De Rouck, Carles Pons, Sadie Schlabach, Yoseph Kassa, Claudia Colabella, Dong-Sic Choi, Yves Jacob, Joseph N. Paulson, Javier De Las Rivas, Madeleine F. Hardy, Francisco J. Campos-Laborie, Xinping Yang, Soon Gang Choi, Frederick P. Roth, Kerstin Spirohn, Nishka Kishore, Luke Lambourne, Cassandra D’Amata, Dawit Balcha, Adriana San-Miguel, Anupama Yadav, Anjali Gopal, Suet-Feung Chin, Suzanne Gaudet, Yang Wang, István Kovács, Elodie Hatchi, Natascha van Lieshout, Michael A. Calderwood, Yu Xia, Gloria M. Sheynkman, Robert J. Weatheritt, Marinella Gebbia, Atina G. Cote, Bridget E. Begg, Mohamed Helmy, Katja Luck, Bridget Teeking, Quan Zhong, Serena Landini, David E. Hill, Sudharshan Rangarajan, Georges Coppin, Ghazal Haddad, Omer Basha, Carl Pollis, Dylan Markey, Alice Desbuleux, Hanane Ennajdaoui, Dae-Kyum Kim, Vincent Tropepe, Roujia Li, Steven Deimling, Jennifer J. Knapp, Jan Tavernier, Mariana Babor, Benoit Charloteaux, Gary D. Bader, Alexander O. Tejeda, Aaron Richardson, Ruth Brignall, Ashyad Rayhan, Irma Lemmens, Tong Hao, Christian Bowman-Colin, Janusz Rak, David De Ridder, Jochen Weile, Wenting Bian, Jean-Claude Twizere, Patrick Aloy, Esti Yeger-Lotem, Meaghan Daley, Tiziana M. Cafarelli, Andrew MacWilliams, Miles W. Mee, Yun Shen

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname
Nature
Nature, Nature Publishing Group, 2020, 580 (7803), pp.402-408. ⟨10.1038/s41586-020-2188-x⟩
Nature, 2020, 580 (7803), pp.402-408. ⟨10.1038/s41586-020-2188-x⟩

et al.
Global insights into cellular organization and genome function require comprehensive understanding of the interactome networks that mediate genotype–phenotype relationships1,2. Here we present a human ‘all-by-all’ reference interact

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faac39e9886775ddfef26fed76c6c35f
http://hdl.handle.net/10261/222715

Genetic effects on gene expression across human tissues

Autor: Manuel Muñoz-Aguirre, Pejman Mohammadi, Boxiang Liu, Eric Gamazon, Martijn Van de Bunt, Roger Little, Ferran Reverter, Richard Sandstrom, Jemma Nelson, Omer Basha, Thomas Juettemann, Yi-Hui Zhou, Olivier Delaneau, Robert Handsaker, Gerald Quon, Fan Wu, Panagiotis Papasaikas, Magali Ruffier, Halit Ongen, Daniel MacArthur, Daniel Zerbino, Carlos D. Bustamante, Peter Hickey, Pedro Ferreira, Sarah Kim-Hellmuth, Paul Flicek, Yaping Liu, Tuuli Lappalainen, Barbara Engelhardt, Esti Yeger-Lotem, Christine Peterson, Rajinder Kaul, Dan Nicolae, David Davis, Ruth Barshir, Michael Sammeth, Stephen Montgomery, Diego Garrido-Martín, Kasper Hansen, Andrew Brown, Taru Tukiainen, Tyler Shimko, Laure Frésard, Mark McCarthy, Joshua Akey, Brian Jo

Publikováno v: Recercat. Dipósit de la Recerca de Catalunya
instname
Nature, Vol. 550, No 7675 (2017) pp. 204-213
Nature, 550(7675), 204-213. Nature Publishing Group
Nature
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)

Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project ai

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4312806202dcf8e154be407e8be00e6c
https://doi.org/10.1038/nature24277