Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations

Autor: Morgan N. Similuk, Jia Yan, Rajarshi Ghosh, Andrew J. Oler, Luis M. Franco, Michael R. Setzer, Michael Kamen, Colleen Jodarski, Thomas DiMaggio, Joie Davis, Rachel Gore, Leila Jamal, Adrienne Borges, Nicole Gentile, Julie Niemela, Chenery Lowe, Kathleen Jevtich, Yunting Yu, Haley Hullfish, Amy P. Hsu, Celine Hong, Patricia Littel, Bryce A. Seifert, Joshua Milner, Jennifer J. Johnston, Xi Cheng, Zhiwen Li, Daniel Veltri, Ke Huang, Krishnaveni Kaladi, Jason Barnett, Lingwen Zhang, Nikita Vlasenko, Yongjie Fan, Eric Karlins, Satishkumar Ranganathan Ganakammal, Robert Gilmore, Emily Tran, Alvin Yun, Joseph Mackey, Svetlana Yazhuk, Justin Lack, Vasudev Kuram, Wenjia Cao, Susan Huse, Karen Frank, Gary Fahle, Sergio Rosenzweig, Yan Su, SuJin Hwang, Weimin Bi, John Bennett, Ian A. Myles, Suk See De Ravin, Ivan Fuss, Warren Strober, Bibiana Bielekova, Adriana Almeida de Jesus, Raphaela Goldbach-Mansky, Peter Williamson, Kelly Kumar, Caeden Dempsy, Pamela Frischmeyer-Guerrerio, Robin Fisch, Hyejeong Bolan, Dean D. Metcalfe, Hirsh Komarow, Melody Carter, Kirk M. Druey, Irini Sereti, Lesia Dropulic, Amy D. Klion, Paneez Khoury, Elise M. O' Connell, Nicole C. Holland-Thomas, Thomas Brown, David H. McDermott, Philip M. Murphy, Vanessa Bundy, Michael D. Keller, Christine Peng, Helen Kim, Stephanie Norman, Ottavia M. Delmonte, Elizabeth Kang, Helen C. Su, Harry Malech, Alexandra Freeman, Christa Zerbe, Gulbu Uzel, Jenna R.E. Bergerson, V. Koneti Rao, Kenneth N. Olivier, Jonathan J. Lyons, Andrea Lisco, Jeffrey I. Cohen, Michail S. Lionakis, Leslie G. Biesecker, Sandhya Xirasagar, Luigi D. Notarangelo, Steven M. Holland, Magdalena A. Walkiewicz

Publikováno v: J Allergy Clin Immunol

BACKGROUND: Prospective genetic evaluation of patients at our referral research hospital presents clinical research challenges. OBJECTIVE: This study sought not only a single-gene explanation for participants’ immune-related presentations, but view

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8f8a28d08c3a4960c10b7fc3d195a47
https://doi.org/10.1016/j.jaci.2022.06.009

ImmunoTyper-SR: A computational approach for genotyping immunoglobulin heavy chain variable genes using short-read data

Autor: Michael K.B. Ford, Ananth Hari, Oscar Rodriguez, Junyan Xu, Justin Lack, Cihan Oguz, Yu Zhang, Andrew J. Oler, Ottavia M. Delmonte, Sarah E. Weber, Mary Magliocco, Jason Barnett, Sandhya Xirasagar, Smilee Samuel, Luisa Imberti, Paolo Bonfanti, Andrea Biondi, Clifton L. Dalgard, Stephen Chanock, Lindsey B. Rosen, Steven M. Holland, Helen C. Su, Luigi D. Notarangelo, Uzi Vishkin, Corey T. Watson, S. Cenk Sahinalp, Kerry Dobbs, Elana Shaw, Miranda F. Tompkins, Camille Alba, Adelani Adeleye, Samuel Li, Jingwen Gu

Publikováno v: Cell Systems. 13:808-816.e5

Human immunoglobulin heavy chain (IGH) locus on chromosome 14 includes more than 40 functional copies of the variable gene (IGHV), which are critical for the structure of antibodies that identify and neutralize pathogenic invaders as a part of the ad

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf15f7ff579098924124b065058ccf7a
https://doi.org/10.1016/j.cels.2022.08.008

Balancing Confidentiality and Sharing of Genomic and Phenotypic Data in a Clinical Research System

Autor: Morgan Similuk, Octavio Juarez-Espinosa, Ke Huang, Xi Cheng, Sandhya Xirasagar, Yongjie Fan, Joyce Johnson, Lingwen Zhang, Magdalena Walkiewicz, Daniel Veltri, Celine Hong, Jason Barnett, Joshua D. Milner, Andrew J. Oler, Zhiwen Li

Publikováno v: BCB

We recently developed the Genomics Research Integration System (GRIS) to help NIAID investigators at the NIH leverage both phenotypic and genotypic patient data to identify causal variants for rare diseases. The project is a bioinformatics compliment

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3542f79e3a4de90bad67ffdc72e75673
https://doi.org/10.1145/3233547.3233641

The Papillomavirus Episteme: a central resource for papillomavirus sequence data and analysis

Autor: Sandya Bandaru, Sandhya Xirasagar, Yasmin Ali Mohamoud, Vivek Gopalan, Alison A. McBride, Qina Tan, Koenraad Van Doorslaer, Yentram Huyen

Publikováno v: Nucleic Acids Research

The goal of the Papillomavirus Episteme (PaVE) is to provide an integrated resource for the analysis of papillomavirus (PV) genome sequences and related information. The PaVE is a freely accessible, web-based tool (http://pave.niaid.nih.gov) created

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7980e60ad31f3a770ff780d6979778bc
https://doi.org/10.1093/nar/gks984

Vav1 Regulates Phospholipase Cγ Activation and Calcium Responses in Mast Cells

Autor: Ramachandran Arudchandran, Sandhya Xirasagar, Victor L. J. Tybulewicz, Juan Rivera, Claudia González-Espinosa, Timothy Scott Manetz

Publikováno v: Molecular and Cellular Biology. 21:3763-3774

The early events following activation of the high-affinity receptor for immunoglobulin E (IgE) (FcɛRI) on mast cells are well studied (32). Like other immunoreceptors, FcɛRI contains multiple subunits, the IgE binding α chain, and the β and γ ch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a56799f65b21c97868e7e5fcfc0fd5dc
https://doi.org/10.1128/mcb.21.11.3763-3774.2001