A genome-wide case-only test for the detection of digenic inheritance in human exomes

Authors: Kerner, Gaspard, Bouaziz, Matthieu, Cobat, Aurélie, Bigio, Benedetta, Timberlake, Andrew T., Bustamante, Jacinta, Lifton, Richard P., Casanova, Jean-Laurent, Abel, Laurent

Source: Proceedings of the National Academy of Sciences of the United States of America, 2020 Aug 01. 117(32), 19367-19375.

Access URL: https://www.jstor.org/stable/26968713

Taking population stratification into account by local permutations in rare‐variant association studies on small samples

Authors: Mullaert, Jimmy, Bouaziz, Matthieu, Seeleuthner, Yoann, Bigio, Benedetta, Casanova, Jean‐Laurent, Alcaïs, Alexandre, Abel, Laurent, Cobat, Aurélie

Source: Genetic epidemiology. 45(8):821-829

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100134554119.0x000001&indx=1&recIds=ETOCvdc_100134554119.0x000001

The combined use of scRNA-seq and network propagation highlights key features of pan-cancer Tumor-Infiltrating T cells.

Authors: Mangelinck, Adèle, Molitor, Elodie, Marchiq, Ibtissam, Alaoui, Lamine, Bouaziz, Matthieu, Andrade-Pereira, Renan, Darville, Hélène, Becht, Etienne, Lefebvre, Céline

Source: PLoS ONE; 12/27/2024, Vol. 19 Issue 12, p1-19, 19p

Subject Terms: REGULATORY T cells, T-cell exhaustion, GENE expression, CELL populations, TRANSCRIPTOMES

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

Authors: Bolze, Alexandre, Boisson, Bertrand, Bosch, Barbara, Antipenko, Alexander, Bouaziz, Matthieu, Sackstein, Paul, Chaker-Margot, Malik, Barlogis, Vincent, Briggs, Tracy, Colino, Elena, Elmore, Aurora C., Fischer, Alain, Genel, Ferah, Hewlett, Angela, Jedidi, Maher, Kelecic, Jadranka, Krüger, Renate, Ku, Cheng-Lung, Kumararatne, Dinakantha, Lefevre-Utile, Alain, Loughlin, Sam, Mahlaoui, Nizar, Markus, Susanne, Garcia, Juan-Miguel, Nizon, Mathilde, Oleastro, Matias, Pac, Malgorzata, Picard, Capucine, Pollard, Andrew J., Rodriguez-Gallego, Carlos, Thomas, Caroline, Von Bernuth, Horst, Worth, Austen, Meyts, Isabelle, Risolino, Maurizio, Selleri, Licia, Puel, Anne, Klinge, Sebastian, Abel, Laurent, Casanova, Jean-Laurent

Source: Proceedings of the National Academy of Sciences of the United States of America, 2018 Aug . 115(34), E8007-E8016.

Access URL: https://www.jstor.org/stable/26530204

Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia

Authors: Alodayani, Abdulrahman N., Al-Otaibi, Abdulnasir M., Deswarte, Caroline, Frayha, Husn Habib, Bouaziz, Matthieu, AlHelale, Maryam, Le Voyer, Tom, Nieto-Patlan, Alejandro, Rattina, Vimel, AlZahrani, Mofareh, Halwani, Rabih, Al Sohime, Fahad, Al-Mousa, Hamoud, Al-Muhsen, Saleh, Alhajjar, Sami H., Dhayhi, Nabil S., Abel, Laurent, Casanova, Jean-Laurent, Bin-Hussain, Ibrahim, AlBarrak, May S., Al-Jumaah, Suliman A., Bustamante, Jacinta

Source: Journal of clinical immunology. 38(3):278-282

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100127653486.0x000001&indx=1&recIds=ETOCvdc_100127653486.0x000001

Controlling for human population stratification in rare variant association studies.

Authors: Bouaziz, Matthieu^1,2 (AUTHOR), Mullaert, Jimmy^1,2,3,4 (AUTHOR), Bigio, Benedetta⁵ (AUTHOR), Seeleuthner, Yoann^1,2 (AUTHOR), Casanova, Jean-Laurent^1,2,5,6 (AUTHOR), Alcais, Alexandre^1,2 (AUTHOR), Abel, Laurent^1,2,5 (AUTHOR), Cobat, Aurélie^1,2 (AUTHOR) aurelie.cobat@inserm.fr

Source: Scientific Reports. 9/24/2021, Vol. 11 Issue 1, p1-14. 14p.

Subject Terms: *SAMPLE size (Statistics), *CONTROL boards (Electrical engineering), *PERMUTATIONS, *HUMAN beings

SHIPS: Spectral Hierarchical Clustering for the Inference of Population Structure in Genetic Studies.

Authors: Bouaziz, Matthieu^1,2 matthieu.x.bouaziz@gmail.com, Paccard, Caroline¹, Guedj, Mickael¹, Ambroise, Christophe²

Source: PLoS ONE. Oct2012, Vol. 7 Issue 10, Special section p1-17. 17p.

Subject Terms: *GENETIC research, *POPULATION, *STATISTICS, *GENETIC databases, *ALGORITHMS, *COST

Accounting for Population Stratification in Practice: A Comparison of the Main Strategies Dedicated to Genome-Wide Association Studies.

Authors: Bouaziz, Matthieu^1,2 matthieu.x.bouaziz@gmail.com, Ambroise, Christophe², Guedj, Mickael¹

Source: PLoS ONE. 2011, Vol. 6 Issue 12, p1-13. 13p.

Subject Terms: *GENOMES, *REGRESSION analysis, *LOCUS (Genetics), *DISEASE susceptibility, *META-analysis, *ETIOLOGY of diseases

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Tuberculosis and impaired IL-23–dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant.

Authors: Boisson-Dupuis, Stéphanie, Ramirez-Alejo, Noe, Li, Zhi, Patin, Etienne, Rao, Geetha, Kerner, Gaspard, Lim, Che Kang, Krementsov, Dimitry N., Hernandez, Nicholas, Ma, Cindy S., Zhang, Qian, Markle, Janet, Martinez-Barricarte, Ruben, Payne, Kathryn, Fisch, Robert, Deswarte, Caroline, Halpern, Joshua, Bouaziz, Matthieu, Mulwa, Jeanette, Sivanesan, Durga

Source: Science Immunology; 2018, Vol. 3 Issue 30, p1-19, 19p

Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia.

Authors: Alodayani, Abdulrahman N., Al-Otaibi, Abdulnasir M., Deswarte, Caroline, Frayha, Husn Habib, Bouaziz, Matthieu, AlHelale, Maryam, Le Voyer, Tom, Nieto-Patlan, Alejandro, Rattina, Vimel, AlZahrani, Mofareh, Halwani, Rabih, Al Sohime, Fahad, Al-Mousa, Hamoud, Al-Muhsen, Saleh, Alhajjar, Sami H., Dhayhi, Nabil S., Abel, Laurent, Casanova, Jean-Laurent, Bin-Hussain, Ibrahim, AlBarrak, May S.

Source: Journal of Clinical Immunology; Apr2018, Vol. 38 Issue 3, p278-282, 5p

Subject Terms: MYCOBACTERIAL diseases, MICROBIAL sensitivity tests, GENETIC mutation, BCG vaccines, INTERLEUKIN-12

The human CIB1–EVER1–EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses

Authors: de Jong, Sarah Jill, Créquer, Amandine, Matos, Irina, Hum, David, Gunasekharan, Vignesh, Lorenzo, Lazaro, Jabot-Hanin, Fabienne, Imahorn, Elias, Arias, Andres A., Vahidnezhad, Hassan, Youssefian, Leila, Markle, Janet G., Patin, Etienne, D’Amico, Aurelia, Wang, Claire Q.F., Full, Florian, Ensser, Armin, Leisner, Tina M., Parise, Leslie V., Bouaziz, Matthieu, Maya, Nataly Portilla, Cadena, Xavier Rueda, Saka, Bayaki, Saeidian, Amir Hossein, Aghazadeh, Nessa, Zeinali, Sirous, Itin, Peter, Krueger, James G., Laimins, Lou, Abel, Laurent, Fuchs, Elaine, Uitto, Jouni, Franco, Jose Luis, Burger, Bettina, Orth, Gérard, Jouanguy, Emmanuelle, Casanova, Jean-Laurent

Source: The Journal of Experimental Medicine; September 2018, Vol. 215 Issue: 9 p2289-2310, 22p

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Multiple Testing in Large-Scale Genetic Studies.

Authors: Bouaziz, Matthieu, Jeanmougin, Marine, Guedj, Mickaël

Source: Data Production & Analysis in Population Genomics; 2012, p213-233, 21p