Comparing Classifications from Multiple Variant Annotation Software Solutions Using Real-World Next Generation Sequencing Data from Oncology Testing

Autor: Roy Khalife, Tara M. Love, Lara Sucheston-Campbell, Michael J. Clark, Helle Sorensen, Shuba Krishna, Anthony Magliocco

Publikováno v: Journal of Molecular Pathology, Vol 5, Iss 1, Pp 81-95 (2024)

Variant annotation is an important step in deciphering the functional impact of genomic variants and their association with diseases. In this study, we analyzed 80 pan-cancer cases that underwent comprehensive genomic testing and compared the auto-cl

Externí odkaz: https://doaj.org/article/4e6cb36828fc4ae6a2540da897e7724f

Shared graft-versus-leukemia minor histocompatibility antigens in DISCOVeRY-BMT

Autor: Kelly S. Olsen, Othmane Jadi, Sarah Dexheimer, Dante S. Bortone, Steven P. Vensko, Sarah Bennett, Hancong Tang, Marisa Diiorio, Tanvi Saran, David Dingfelder, Qianqian Zhu, Yiwen Wang, Christopher A. Haiman, Loreall Pooler, Xin Sheng, Amy Webb, Marcelo C. Pasquini, Philip L. McCarthy, Stephen R. Spellman, Eric Weimer, Theresa Hahn, Lara Sucheston-Campbell, Paul M. Armistead, Benjamin G. Vincent

Publikováno v: Blood Advances. 7:1635-1649

T-cell responses to minor histocompatibility antigens (mHAs) mediate graft-versus-leukemia (GVL) effects and graft-versus-host disease (GVHD) in allogeneic hematopoietic cell transplantation. Therapies that boost T-cell responses improve allogeneic h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fe9171a608c2eb913a775b2e790ffe8
https://doi.org/10.1182/bloodadvances.2022008863

Supplementary Figure 4 from Putative Linkage Signals Identified for Breast Cancer in African American Families

Autor: Robert C. Elston, Lara Sucheston-Campbell, Lina Jandorf, Deborah O. Erwin, Jill Barnholtz-Sloan, Yanwen Chen, Xiangqing Sun, Heather M. Ochs-Balcom

Supplementary Figure 4. Model-free multi-point linkage by RELPAL with a maximum of 1,000,000 permutations using all relative pairs, adjusting for age and global ancestry at the individual level. Linkage P values evaluated using the alternative varian

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b7b1ab44d072c2c92b97f9733017f95
https://doi.org/10.1158/1055-9965.22437547.v1

Supplementary Tables 1-9 from Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Autor: Antonis C. Antoniou, Douglas F. Easton, Georgia Chenevix-Trench, Beth Karlan, Christine Walsh, Jenny Gross, Kate Nathanson, Simon A. Gayther, Lara Sucheston, Kunle Odunsi, Mary Beattie, Robert Nussbaum, Susan L. Neuhausen, Linda Steele, Karin Henriksson, Anna von Wachenfeld, Johanna Rantala, Paolo Aretini, Maria Caligo, Torben Kruse, Anne-Marie Gerdes, Mads Thomassen, Kevin Sweet, Leigha Senter, Amanda Ewart Toland, Evgeny Imyanitov, Anna Sokolenko, Mark H. Greene, Phuong L. Mai, Christine Rappaport, Muy-Kheng Tea, Christian F. Singer, Mia M. Gaudet, Rita Sakr, Kenneth Offit, Csilla Szabo, Noralane M. Lindor, Vernon S. Pankratz, Zachary Fredericksen, Xianshu Wang, Judy E. Garber, Nadine Tung, Wendy Rubinstein, Timothy R. Rebbeck, Stephen Fox, Max Yan, Emma D'Andrea, Simona Agata, Marco Montagna, Jacques Simard, Martine Dumont, Rosa B. Barkardottir, Adalgeir Arason, Bjarni A. Agnarsson, Joan Brunet, Conxi Lazaro, Ignacio Blanco, Kristiina Aittomäki, Päivi Heikkilä, Tuomas Heikkinen, Carmen Cañadas, Miguel de la Hoya, Trinidad Caldes, Beth N. Peshkin, Claudine Isaacs, Laure Barjhoux, Muriel Belotti, Dominique Stoppa-Lyonnet, Heidrun Gevensleben, Ines Schönbuchner, Raymonda Varon-Mateeva, Sabine Preisler-Adams, Doroteha Gadzicki, Helmut Deissler, Christian Sutter, Dieter Niederacher, Norbert Arnold, Karin Kast, Alfons Meindl, Barbara Wappenschmidt, Rita K. Schmutzler, Andrew K. Godwin, JoEllen Weaver, Catherine Houghton, Lucy E. Side, Mark T. Rogers, Lisa Walker, Carole Brewer, D. Gareth Evans, Debra Frost, Susan Peock, Rob B. van der Luijt, Mieke Kriege, Frans B. Hogervorst, Muhammad U. Rashid, Ute Hamann, Paolo Radice, Laura Ottini, Anna Laura Putignano, Riccardo Dolcetti, Barbara Pasini, Sara Volorio, Monica Barile, Bernard Peissel, Siranoush Manoukian, Javier Benítez, Alexandra Stavropoulou, Ana Osorio, Finn C. Nielsen, Thomas V. O. Hansen, Laima Tihomirova, Ramunas Janavicius, Esther M. John, Frances O'Malley, David Goldgar, Mary Beth Terry, Melissa C. Southey, Olga M. Sinilnikova, Sue Healey, Lesley McGuffog, Christoph Engel, Fergus J. Couch, Anna Marie Mulligan, Mark Sherman, Mark Robson, Amanda Spurdle, Susan J. Ramus, Heli Nevanlinna, Diana Eccles, Susan M. Domchek, Irene L. Andrulis, Daniel Barrowdale, Nasim Mavaddat

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4433dad8020516dbf09c92d1765c74ec
https://doi.org/10.1158/1055-9965.22438447.v1

Data from Putative Linkage Signals Identified for Breast Cancer in African American Families

Autor: Robert C. Elston, Lara Sucheston-Campbell, Lina Jandorf, Deborah O. Erwin, Jill Barnholtz-Sloan, Yanwen Chen, Xiangqing Sun, Heather M. Ochs-Balcom

Background: Genome-wide association studies have identified polymorphisms associated with breast cancer subtypes and across multiple population subgroups; however, few studies to date have applied linkage analysis to other population groups.Methods:

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fa2b224970a625d5c3cef883db2c26b
https://doi.org/10.1158/1055-9965.c.6515932