Results 11 to 20 of about 746,068 (249)
Somatic point mutation calling in low cellularity tumors. [PDF]
PLoS ONE, 2013 Somatic mutation calling from next-generation sequencing data remains a challenge due to the difficulties of distinguishing true somatic events from artifacts arising from PCR, sequencing errors or mis-mapping.
Karin S Kassahn +33 more
doaj +5 more sources
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
Somatic Mutations and Autoimmunity [PDF]
Cells, 2021 Autoimmune diseases are among the most common chronic illness caused by a dysregulated immune response against self-antigens. Close to 5% of the general population in Western countries develops some form of autoimmunity, yet its underlying causes, although intensively studied, are still not fully known, and no curative therapies exist.
Maha Alriyami, Constantin Polychronakos
openaire +3 more sources
Can somatic GATA2 mutation mimic germ line GATA2 mutation? [PDF]
Blood Advances, 2018 Key Points Somatic GATA2 mutation is associated with immunodeficiency and pulmonary alveolar proteinosis in a patient with myeloproliferative neoplasm.
Mallika Sekhar +7 more
doaj +4 more sources
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
Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life [PDF]
, 2007 Friedreich ataxia (FRDA) patients are homozygous for expanded GAA triplet-repeat alleles in the FXN gene. Primary neurodegeneration involving the dorsal root ganglia (DRG) results in progressive ataxia.
Ramussen, A +25 more
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
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
doaj +1 more source
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
doaj +1 more source