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Somatic Mutations

3D clusters of somatic mutations in cancer reveal numerous rare mutations as functional targets

3D clusters of somatic mutations in cancer reveal numerous rare mutations as functional targets

... hgLiftOver). Mutations were annotated based on Ensembl release 75, and the mutational effect was anno- tated on canonical isoforms per gene defined by UniProt canonical sequences ...as somatic ...

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Somatic mutations in the mitochondria of rheumatoid arthritis synoviocytes

Somatic mutations in the mitochondria of rheumatoid arthritis synoviocytes

... mtDNA mutations [11]. Peptides altered by somatic mutations would be presented by MHC and may be recognized as ...by somatic mutations in the RA and OA patients' mitochondrial samples ...

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Population-based statistical inference for temporal sequence of somatic mutations in cancer genomes

Population-based statistical inference for temporal sequence of somatic mutations in cancer genomes

... between somatic mutations in a gene pair and applied the method for the mutation profiles from indi- vidual tumor ...of somatic mutations observed in no fewer than 10 cases (Additional file 2: ...

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Sporadic PCDH18 somatic mutations in EpCAM-positive hepatocellular carcinoma

Sporadic PCDH18 somatic mutations in EpCAM-positive hepatocellular carcinoma

... genetic mutations that potentially impair the function of the encoded ...potential somatic mutations that affect 56 different genes in HCC1 and HCC2 (see Additional file ...detected mutations ...

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Statistical Analysis of Pathogenicity of Somatic Mutations in Cancer

Statistical Analysis of Pathogenicity of Somatic Mutations in Cancer

... for somatic mutations in human cancers have been ...driver mutations in cancer genes that are causally implicated in cancer development (F utreal et ...for somatic mutations can be ...

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Ada Boost Ensemble Classifier for Identification of Somatic Mutations

Ada Boost Ensemble Classifier for Identification of Somatic Mutations

... classify somatic genes with high classification ...of somatic cancer independent of gene ...the somatic cancer datasets to produce accurate performance of significance of cancer and compared with ...

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Whole-exome sequencing to identify somatic mutations in

Whole-exome sequencing to identify somatic mutations in

... of somatic mutations in these genes after metastasis, may drive phenotypic changes in cancer cells and the metastasis of gastric ...a somatic mutation in ERBB4 that may exert a damaging ...of ...

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Patterns and processes of somatic mutations in nine major cancers

Patterns and processes of somatic mutations in nine major cancers

... of somatic mutations in cancer genomes. In fact, somatic mutations in each cancer genome could reflect the lifetime interplay between DNA damage and DNA repair processes in cancer patients ...

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Age-related somatic mutations in the cancer genome

Age-related somatic mutations in the cancer genome

... Somatic mutations are generally accepted to cause cancer and have also been implicated as a cause of aging ...that somatic mutations accumulate with age in a tissue-specific manner, with ...

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Erratum to: Somatic mutations in cancer development

Erratum to: Somatic mutations in cancer development

... events, somatic mutations: thus, cancer can be regarded properly as a genetic disease of somatic ...the somatic mutations in an individual tumor – we could call this the somatic ...

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An ensemble approach to accurately detect somatic mutations using SomaticSeq

An ensemble approach to accurately detect somatic mutations using SomaticSeq

... virtual somatic muta- tions, which presented a prior somatic mutation rate of about one out of ...one somatic muta- tion out of every million base pairs ...virtual somatic mutations ...

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Somatic mutations in cancer development

Somatic mutations in cancer development

... events, somatic mutations: thus, cancer can be regarded properly as a genetic disease of somatic ...the somatic mutations in an individual tumor – we could call this the somatic ...

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Immunohistochemical correlates of TP53 somatic mutations in cancer

Immunohistochemical correlates of TP53 somatic mutations in cancer

... TP53 somatic mutations and define their occurrence in human ...7878 mutations with IHC features were retrieved representing 60 distinct tumour ...4897 mutations showing a female dominance ...

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Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes

... Although more extensive studies are required to fully elucidate the genetics of FCD, the case described in this study provides a new lead. It remains possible that the FCD was an incidental finding in our re- ported ...

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Multiplicity: an organizing principle for cancers and somatic mutations

Multiplicity: an organizing principle for cancers and somatic mutations

... with somatic mutations is to separate the “ wheat from the chaff ” or identify which genes are gatekeepers, drivers, or passengers ...multiple somatic mutations ...as mutations occur in ...

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Patterns of Somatic Mutations in Immunoglobulin Variable Genes

Patterns of Somatic Mutations in Immunoglobulin Variable Genes

... dictions of mutation involving misaligned structural intermediates mediated by either direct or inverted repeats are (1) base substitutions are templated and, hence, stron[r] ...

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RADIATION-INDUCED PRESUMED SOMATIC MUTATIONS IN THE HOUSE MOUSE

RADIATION-INDUCED PRESUMED SOMATIC MUTATIONS IN THE HOUSE MOUSE

... Since 100r to embryos of the C57BL X C57BL matings increases the incidence of these midventral white spots to 27 percent, some pigment cell killing must be assumed; and since th[r] ...

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Depletion of somatic mutations in splicing associated sequences in cancer genomes

Depletion of somatic mutations in splicing associated sequences in cancer genomes

... splice-disrupting mutations be? We here have concentrated on synonymous variants to overcome the evident difficulty in interpretation of results from non-synonymous ...point mutations (synonymous or ...

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Somatic mutations in telomerase promoter counterbalance germline loss of function mutations

Somatic mutations in telomerase promoter counterbalance germline loss of function mutations

... inherited mutations demonstrate incomplete penetrance of clinical phenotypes affecting the lung, blood, liver, skin, and other ...the somatic acquisition of promoter mutations in telomerase reverse ...

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The search for cis -regulatory driver mutations in cancer genomes

The search for cis -regulatory driver mutations in cancer genomes

... cis-regulatory somatic mutations with potentially subtle impacts on gene expression, in the absence of targeted experimental ...recurrent mutations proximal to PLEKHS1 that were discussed ...These ...

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