Results 81 to 90 of about 14,999,742 (341)

Evaluating topography of mutational signatures with SigProfilerTopography

open access: yesGenome Biology
The mutations found in a cancer genome are shaped by diverse processes, each displaying a characteristic mutational signature that may be influenced by the genome’s architecture.
Burçak Otlu, Ludmil B. Alexandrov
doaj   +1 more source

Mutational Signatures Are Critical for Proper Estimation of Purifying Selection Pressures in Cancer Somatic Mutation Data When Using the dN/dS Metric

open access: yesFrontiers in Genetics, 2017
Large cancer genome sequencing initiatives have led to the identification of cancer driver genes based on signals of positive selection in somatic mutation data.
Jimmy Van den Eynden   +2 more
doaj   +1 more source

Effect of Host Species on the Distribution of Mutational Fitness Effects for an RNA Virus

open access: yesPLoS Genetics, 2011
Knowledge about the distribution of mutational fitness effects (DMFE) is essential for many evolutionary models. In recent years, the properties of the DMFE have been carefully described for some microorganisms.
Jasna Lalić, J. Cuevas, S. Elena
semanticscholar   +1 more source

Analyzing Effects of Naturally Occurring Missense Mutations [PDF]

open access: yesComputational and Mathematical Methods in Medicine, 2012
Single-point mutation in genome, for example, single-nucleotide polymorphism (SNP) or rare genetic mutation, is the change of a single nucleotide for another in the genome sequence. Some of them will produce an amino acid substitution in the corresponding protein sequence (missense mutations); others will not.
Zhang, Zhe   +3 more
openaire   +3 more sources

Enteropathogenic E. coli shows delayed attachment and host response in human jejunum organoid‐derived monolayers compared to HeLa cells

open access: yesFEBS Letters, EarlyView.
Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi   +5 more
wiley   +1 more source

Towards mechanistic models of mutational effects: Deep learning on Alzheimer’s Aβ peptide

open access: yesComputational and Structural Biotechnology Journal, 2023
Deep Mutational Scanning (DMS) has enabled multiplexed measurement of mutational effects on protein properties, including kinematics and self-organization, with unprecedented resolution.
Bo Wang, Shahab Razavi, Eric R. Gamazon
doaj   +1 more source

Somatic mutations render human exome and pathogen DNA more similar

open access: yes, 2019
Immunotherapy has recently shown important clinical successes in a substantial number of oncology indications. Additionally, the tumor somatic mutation load has been shown to associate with response to these therapeutic agents, and specific mutational ...
Cristescu, Razvan   +4 more
core   +1 more source

Scaling laws in bacterial genomes: A side-effect of selection of mutational robustness? [PDF]

open access: yes, 2010
In the past few years, numerous research projects have focused on identifying and understanding scaling properties in the gene content of prokaryote genomes and the intricacy of their regulation networks.
Adami   +37 more
core   +4 more sources

Accurate Mutation Effect Prediction using RoseTTAFold

open access: yesbioRxiv, 2022
Predicting the effects of mutations on protein function is an outstanding challenge. Here we assess the performance of the deep learning based RoseTTAFold structure prediction and design method for unsupervised mutation effect prediction.
Sanaa Mansoor   +4 more
semanticscholar   +1 more source

Effect of Mutation Order on Myeloproliferative Neoplasms [PDF]

open access: yesNew England Journal of Medicine, 2015
Cancers result from the accumulation of somatic mutations, and their properties are thought to reflect the sum of these mutations. However, little is known about the effect of the order in which mutations are acquired.We determined mutation order in patients with myeloproliferative neoplasms by genotyping hematopoietic colonies or by means of next ...
Ortmann, Christina A.   +20 more
openaire   +4 more sources

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