Results 11 to 20 of about 184,063 (257)
Association analysis using somatic mutations. [PDF]
PLoS Genetics, 2018 Somatic mutations drive the growth of tumor cells and are pivotal biomarkers for many cancer treatments. Genetic association analysis using somatic mutations is an effective approach to study the functional impact of somatic mutations.
Yang Liu, Qianchuan He, Wei Sun
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Somatic Mutations in Cardiovascular Disease [PDF]
Circulation Research, 2022 Advances in population-scale genomic sequencing have greatly expanded the understanding of the inherited basis of cardiovascular disease (CVD). Reanalysis of these genomic datasets identified an unexpected risk factor for CVD, somatically acquired DNA mutations. In this review, we provide an overview of somatic mutations and their contributions to CVD.
J. Brett Heimlich, Alexander G. Bick
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Three distinct hematological malignancies from a single germ cell tumor: a case report
Journal of Medical Case Reports, 2020 Background The association between non seminomatous germ cell tumors (GCTs) and hematological malignancies of rare lineage has been described in the literature.
M. Spencer Chapman +3 more
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Mutational signatures are jointly shaped by DNA damage and repair
Nature Communications, 2020 Recent research has shown that mutational signatures reflective of the history of a cancer can be detected in a cancer genome. Here, using whole genome sequencing of DNA repair deficient and proficient nematodes exposed to genotoxins, the authors show ...
Nadezda V. Volkova +10 more
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Haematologica, 2020 Nodal peripheral T-cell lymphoma not otherwise specified (PTCLNOS) remains a diagnosis encompassing a heterogenous group of PTCL cases not fitting criteria for more homogeneous subtypes.
Francesco Maura +18 more
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Nature Communications, 2021 The factors that are associated with myeloma precursor condition progression are not well understood. Here the authors find that monoclonal gammopathies of undetermined significance and smoldering myelomas that did not progress to multiple myelomas have ...
Bénedith Oben +26 more
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Timing the initiation of multiple myeloma
Nature Communications, 2020 The initial mutational processes and how these lead to progression in multiple myeloma (MM) are unclear. Here, the authors identify mutational signatures that occur over time in a large cohort of MM patients and suggest features that may help in early ...
Even H. Rustad +25 more
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Generating realistic null hypothesis of cancer mutational landscapes using SigProfilerSimulator
BMC Bioinformatics, 2020 Background Performing a statistical test requires a null hypothesis. In cancer genomics, a key challenge is the fast generation of accurate somatic mutational landscapes that can be used as a realistic null hypothesis for making biological discoveries ...
Erik N. Bergstrom +3 more
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Identification of Somatic Mutation-Driven Immune Cells by Integrating Genomic and Transcriptome Data
Frontiers in Cell and Developmental Biology, 2021 Tumor somatic mutations in protein-coding regions may generate neoantigens which may trigger antitumor immune cell response. Increasing evidence supports that immune cell response may profoundly influence tumor progression.
Ying Jiang +4 more
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