Results 11 to 20 of about 200,238 (297)
Confidence-based somatic mutation evaluation and prioritization. [PDF]
PLoS Computational Biology, 2012 Next generation sequencing (NGS) has enabled high throughput discovery of somatic mutations. Detection depends on experimental design, lab platforms, parameters and analysis algorithms.
Martin Löwer +12 more
doaj +4 more sources
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples [PDF]
, 2020 The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively.
PCAWG novel somatic mutation calling methods working group +2 more
core +3 more sources
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
doaj +1 more source
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
openaire +2 more sources
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
Identification of novel germline mutations in hereditary colorectal cancer patients and characterization of somatic alterations in their tumors [PDF]
, 2008 Colorectal cancer has been reported as the third leading cause of cancer related death in the world. About 5-10% of colorectal cancers are due to an inherited predisposition.
Zhang, Jian
core +1 more source
The VH gene repertoire of splenic B cells and somatic hypermutation in systemic lupus erythematosus [PDF]
, 2003 In systemic lupus erythematosus (SLE) it has been hypothesized that self-reactive B cells arise from virgin B cells that express low-affinity, nonpathogenic germline V genes that are cross-reactive for self and microbial antigens, which convert to high ...
Stott, DI +11 more
core +1 more source