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Enhanced clinical assessment of hematologic malignancies through routine paired tumor:normal sequencing [post]

Ryan Ryan N. Ptashkin, Mark Ewalt, Gowtham Jayakumaran, Iwona Kiecka, Anita Bowman, JinJuan Yao, Jacklyn Casanova, Yun-Te David Lin, Kseniya Petrova-Drus, Abhinita Mohanty, Ruben Bacares, Jamal Benhamida (+43 others)
2022 unpublished

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Genomic profiling of hematologic malignancies has augmented our understanding of variants that contribute to disease pathogenesis and supported development of prognostic models that inform disease management in the clinic. Tumor only sequencing assays are limited in their ability to identify definitive somatic variants, which can lead to ambiguity in clinical reporting and patient management. Here, we describe the MSK-IMPACT Heme cohort, a comprehensive data set of somatic alterations from
more » ... d tumor and normal DNA using a hybridization capture next generation sequencing platform. We highlight patterns of mutations, copy number alterations, and mutation signatures in a broad set of myeloid and lymphoid neoplasms. We also demonstrate the power of appropriate matching to make definitive somatic calls, including in patients who have undergone allogeneic stem cell transplant. We expect that this resource will further spur research into the pathobiology and clinical utility of clinical sequencing for patients with hematologic neoplasms.
doi:10.21203/rs.3.rs-2094202/v1 fatcat:wmvlqehc2rhcbpjy3zv7bqbz7i
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Ryan Ryan N. Ptashkin, Mark Ewalt, Gowtham Jayakumaran, Iwona Kiecka, Anita Bowman, JinJuan Yao, Jacklyn Casanova, Yun-Te David Lin, Kseniya Petrova-Drus, Abhinita Mohanty, Ruben Bacares, Jamal Benhamida, Satshil Rana, Anna Razumova, Chad Vanderbilt, Anoop Balakrishnan Rema, Ivelise Rijo, Julie Son-Garcia, Ino de Bruijn, Menglei Zhu, Sean Lachhander, Wei Wang, Mohammad Haque, Venkatraman Seshan, Jiajing Wang, Ying Liu, Khedoudja Nafa, Laetitia Borsu, Yanming Zhang, Umut Aypar, Sarah Suehnholz, Debyani Chakravarty, Jae Park, Omar Abdel-Wahab, Anthony Mato, Wenbin Xiao, Mikhail Roshal, Mariko Yabe, Connie Batlevi, Sergio Giralt, Gilles Salles, Raajit Rampal, Martin Tallman, Eytan Stein, Anas Younes, Ross Levine, Miguel-Angel Perales, Marcel van den Brink, Ahmet Dogan, Marc Ladanyi, Michael Berger, Angela Rose Brannon, Ryma Benayed, Ahmet Zehir, Maria Arcila. "Enhanced clinical assessment of hematologic malignancies through routine paired tumor:normal sequencing." (2022)