Results 31 to 40 of about 188,397 (314)

Annotation of Genes Having Candidate Somatic Mutations in Acute Myeloid Leukemia with Whole-Exome Sequencing Using Concept Lattice Analysis [PDF]

Genomics & Informatics, 2013
In cancer genome studies, the annotation of newly detected oncogene/tumor suppressor gene candidates is a challenging process. We propose using concept lattice analysis for the annotation and interpretation of genes having candidate somatic mutations in ...
Kye Hwa Lee, Jae Hyeun Lim, Ju Han Kim
doaj   +1 more source

DNA Pooling in Mutation Detection with Reference to Sequence Analysis [PDF]

The American Journal of Human Genetics, 2000
We discuss pooling methods of mutation detection for identifying rare mutations. We provide mathematical formulae for obtaining the optimal pool size as a function of the mutation frequency in the study population and the specificity of the test. The optimal pool size depends strongly on the specificity of the test. With a test that has 99% specificity,
Amos, Christopher I., Frazier, Marsha L., Wang, Wenfu   +2 more
openaire   +2 more sources

The Landscape of Actionable Genomic Alterations by Next-Generation Sequencing in Tumor Tissue Versus Circulating Tumor DNA in Chinese Patients With Non-Small Cell Lung Cancer

Frontiers in Oncology, 2022
BackgroundCirculating tumor DNA (ctDNA) sequence analysis shows great potential in the management of non-small cell lung cancer (NSCLC) and the prediction of drug sensitivity or resistance in many cancers.
Jun Cai, Huihui Jiang, Shuqing Li, Xiaoxia Yan, Meng Wang, Na Li, Cuimin Zhu, Hui Dong, Dongjuan Wang, Yue Xu, Hui Xie, Shouxin Wu, Jingwei Lou, Jiangman Zhao, Qingshan Li   +14 more
doaj   +1 more source

Mutational analysis of conserved residues in HhaI DNA methyltransferase [PDF]

Nucleic Acids Research, 2002
HhaI DNA methyltransferase belongs to the C5-cytosine methyltransferase family, which is characterized by the presence of a set of highly conserved amino acids and motifs present in an invariant order. HhaI DNA methyltransferase has been subjected to a lot of biochemical and crystallographic studies.
Sankpal, Umesh T, Rao, Desirazu N
openaire   +2 more sources

Mutational signatures of redox stress in yeast single-strand DNA and of aging in human mitochondrial DNA share a common feature.

PLoS Biology, 2019
Redox stress is a major hallmark of cancer. Analysis of thousands of sequenced cancer exomes and whole genomes revealed distinct mutational signatures that can be attributed to specific sources of DNA lesions.
Natalya P Degtyareva, Natalie Saini, Joan F Sterling, Victoria C Placentra, Leszek J Klimczak, Dmitry A Gordenin, Paul W Doetsch   +6 more
doaj   +1 more source

Analysis of microsatellite mutations in the mitochondrial DNA of Saccharomyces cerevisiae [PDF]

Proceedings of the National Academy of Sciences, 2000
In the nuclear genome of Saccharomyces cerevisiae , simple, repetitive DNA sequences (microsatellites) mutate at rates much higher than nonrepetitive sequences. Most of these mutations are deletions or additions of repeat units. The yeast mitochondrial genome also contains many microsatellites.
E A, Sia, C A, Butler, M, Dominska, P, Greenwell, T D, Fox, T D, Petes   +5 more
openaire   +2 more sources

Evolutionary accessibility of mutational pathways

, 2011
Functional effects of different mutations are known to combine to the total effect in highly nontrivial ways. For the trait under evolutionary selection (‘fitness’), measured values over all possible combinations of a set of mutations yield a fitness ...
J Arjan G M de Visser, Visser, J.A.G.M., de, Franke, J., Jasper Franke, Krug, J., de Visser, J.A.G.M., Klozer, A., Joachim Krug, J. Arjan G. M. de Visser, Alexander Klözer   +9 more
core   +1 more source

Sequence specificity of single-stranded DNA-binding proteins:a novel DNA microarray approach [PDF]

, 2007
We have developed a novel DNA microarray-based approach for identification of the sequence-specificity of single-stranded nucleic-acid-binding proteins (SNABPs).
Estibeiro, Peter, Heinemann, U., Wear, M.A., Max, K.E., Morgan, Hugh P, Max, Klaas E A, Sadler, P.J., Morgan, H.P., Walkinshaw, M.D., Heinemann, Udo, Walkinshaw, Malcolm D, Wear, Martin A, Gallagher, Maurice P, Cubeddu, L., Sadler, Peter J, Estibeiro, P., Gallagher, M.P., Cubeddu, Liza   +17 more
core   +1 more source

Accuracy of mutational signature software on correlated signatures

Scientific Reports, 2022
Mutational signatures are characteristic patterns of mutations generated by exogenous mutagens or by endogenous mutational processes. Mutational signatures are important for research into DNA damage and repair, aging, cancer biology, genetic toxicology ...
Yang Wu, Ellora Hui Zhen Chua, Alvin Wei Tian Ng, Arnoud Boot, Steven G. Rozen   +4 more
doaj   +1 more source

Characterization of gyrA and gyrB mutations and fluoroquinolone resistance in Mycobacterium tuberculosis clinical isolates from Hubei Province, China

Brazilian Journal of Infectious Diseases
OBJECTIVE: The study aimed to investigate gyrA and gyrB mutations in Mycobacterium tuberculosis (MTB) clinical strains from 93 patients with pulmonary tuberculosis in Hubei Province, China, and analyze the association between mutation patterns of the ...
Jun Chen, Zhifei Chen, Yuanyuan Li, Wei Xia, Xi Chen, Tian Chen, Liping Zhou, Bin Xu, Shunqing Xu   +8 more
doaj   +1 more source