Results 21 to 30 of about 140,139 (75)

The age incidence of any cancer can be explained by a one-mutation model [PDF]

arXiv, 2008
We propose a one mutation model for cancer with a mutation rate that increases with time. Under rather general hypotheses the number of mutations is necessarily a (non homogeneous) Poisson process with the prescribed mutation rate. We show that the cumulative probability of cancer up to time $t$ is, up to a multiplicative constant, an antiderivative of
arxiv  

Modelling the order of driver mutations and metabolic mutations as structures in cancer dynamics [PDF]

arXiv, 2017
Recent works have stressed the important role that random mutations have in the development of cancer phenotype. We challenge this current view by means of bioinformatic data analysis and computational modelling approaches. Not all the mutations are equally important for the development of metastasis.
arxiv  

Fine-tuning the ESM2 protein language model to understand the functional impact of missense variants [PDF]

arXiv
Elucidating the functional effect of missense variants is of crucial importance, yet challenging. To understand the impact of such variants, we fine-tuned the ESM2 protein language model to classify 20 protein features at amino acid resolution. We used the resulting models to: 1) identify protein features that are enriched in either pathogenic or ...
arxiv  

VEPerform: a web resource for evaluating the performance of variant effect predictors [PDF]

arXiv
Computational variant effect predictors (VEPs) are providing increasingly strong evidence to classify the pathogenicity of missense variants. Precision vs. recall analysis is useful in evaluating VEP performance, especially when adjusted for imbalanced test sets.
arxiv  

MMT: Mutation Testing of Java Bytecode with Model Transformation -- An Illustrative Demonstration [PDF]

arXiv
Mutation testing is an approach to check the robustness of test suites. The program code is slightly changed by mutations to inject errors. A test suite is robust enough if it finds such errors. Tools for mutation testing usually integrate sets of mutation operators such as, for example, swapping arithmetic operators; modern tools typically work with ...
arxiv  

Factors that predict progression of von Hippel-Lindau disease-related malignancy: a longitudinal cohort study. [PDF]

BMC Cancer
Lee JH, Lee HY, Park JE, Kim MJ, Hwang DW, Chong S, Kim M, Lee JY, Song C, Lee BH.   +9 more
europepmc   +1 more source

Novel biallelic TK2 mutations cause mitochondrial DNA depletion syndrome with infantile early-onset lipid storage myopathy. [PDF]

Orphanet J Rare Dis
Li D, Shi Y, Sun H, Yan C, Lin Y.
europepmc   +1 more source

Functional characterization of all <i>CDKN2A</i> missense variants and comparison to in silico models of pathogenicity. [PDF]

Elife
Kimura H, Lahouel K, Tomasetti C, Roberts NJ.   +3 more
europepmc   +1 more source

Functional analysis of a novel FOXL2 mutation in blepharophimosis, ptosis, and epicanthus inversus syndrome type II and elucidation of the genotype-phenotype correlation. [PDF]

Hum Genomics
Shen B, Chen X, Zhu X, Chen Z, Fang Y, Dai Q, Li X, Xie Q, Wu W, Wang M.   +9 more
europepmc   +1 more source

Compound heterozygous variants of the <i>NARS2</i> gene in siblings with refractory seizures: two case report and literature review. [PDF]

Front Pediatr
Wu H, Zhou M, Ye X, Chen H, Lin H, Wang L, Nie X, Zhang L.   +7 more
europepmc   +1 more source