Results 21 to 30 of about 199,006 (315)
Gene characteristics predicting missense, nonsense and frameshift mutations in tumor samples
BMC Bioinformatics, 2018 Background Because driver mutations provide selective advantage to the mutant clone, they tend to occur at a higher frequency in tumor samples compared to selectively neutral (passenger) mutations.
Ivan P. Gorlov +9 more
doaj +1 more source
PLoS Genetics, 2022 Most somatic mutations that arise during normal development are present at low levels in single or multiple tissues depending on the developmental stage and affected organs.
Ja Hye Kim +12 more
doaj +1 more source
Somatic mutations in human ageing: New insights from DNA sequencing and inherited mutations [PDF]
arXiv, 2023 The accumulation of somatic mutations is a driver of cancer and has long been associated with ageing. Due to limitations in quantifying mutation burden with age in non-cancerous tissues, the impact of somatic mutations in other ageing phenotypes is unclear.
arxiv
Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma
BMC Cancer, 2018 Background Germline mutations in BAP1 have been associated with BAP1-Tumor Predisposition Syndrome (BAP1-TPDS), a predisposition to multiple tumors within a family that includes uveal melanoma (UM), cutaneous melanoma, malignant mesothelioma and renal ...
K. G. Ewens +4 more
doaj +1 more source
Uncovering the profile of somatic mtDNA mutations in Chinese colorectal cancer patients. [PDF]
PLoS ONE, 2011 In the past decade, a high incidence of somatic mitochondrial DNA (mtDNA) mutations has been observed, mostly based on a fraction of the molecule, in various cancerous tissues; nevertheless, some of them were queried due to problems in data quality ...
Cheng-Ye Wang +7 more
doaj +1 more source
Age-related somatic mutation burden in human tissues
Frontiers in Aging, 2022 The genome of multicellular organisms carries the hereditary information necessary for the development of all organs and tissues and to maintain function in adulthood.
Peijun Ren +3 more
doaj +1 more source
Somatic mutations in cancer development [PDF]
Environmental Health, 2011 The transformation of a normal cell into a cancer cell takes place through a sequence of a small number of discrete genetic events, somatic mutations: thus, cancer can be regarded properly as a genetic disease of somatic cells. The analogy between evolution of organisms and evolution of cell populations is compelling: in both cases what drives change ...
openaire +3 more sources
Somatic genetic alterations predict hematological progression in GATA2 deficiency
Haematologica, 2023 Germline GATA2 mutations predispose to myeloid malignancies resulting from the progressive acquisition of additional somatic mutations. Here we describe clinical and biological features of 78 GATA2-deficient patients.
Laetitia Largeaud +25 more
doaj +1 more source
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data [PDF]
Bioinformatics (2011) 27:2987-93, 2012 Motivation: Most existing methods for DNA sequence analysis rely on accurate sequences or genotypes. However, in applications of the next-generation sequencing (NGS), accurate genotypes may not be easily obtained (e.g. multi-sample low-coverage sequencing or somatic mutation discovery).
arxiv +1 more source