Results 31 to 40 of about 182,601 (264)

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.
E A, Sia, C A, Butler, M, Dominska, P, Greenwell, T D, Fox, T D, Petes   +5 more
openaire   +2 more sources

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

Prevalências das mutações 35delG/GJB2 e del (GJB6-D13S1830) em portadores de surdez não-sindrômica na população do Espírito Santo - Brasil Prevalence of 35delG/GJB2 and del (GJB6-D13S1830) mutations in patients with non-syndromic deafness from a population of Espírito Santo - Brazil

Brazilian Journal of Otorhinolaryngology, 2010
Mutações no gene GJB2 constituem a principal causa de surdez genética de herança autossômica recessiva, sendo a mutação 35delG a mais comum em muitos grupos étnicos.
Melissa de Freitas Cordeiro-Silva, Andressa Barbosa, Marília Santiago, Mariana Provetti, Eliete Rabbi-Bortolini   +4 more
doaj   +1 more source

Systematic pan-cancer analysis of the potential tumor diagnosis and prognosis biomarker P4HA3

Frontiers in Genetics, 2023
Purpose: Prolyl 4-hydroxylase subunit alpha 3 (P4HA3) is implicated in several cancers’ development. However, P4HA3 has not been reported in other cancers, and the exact mechanism of action is currently unknown.Materials and methods: First, the ...
Yinteng Wu, Bo Zhang, Juan Nong, Raquel Alarcòn Rodrìguez, Wenliang Guo, Ying Liu, Shijian Zhao, Ruqiong Wei   +7 more
doaj   +1 more source

Personalized Zebrafish Models for Fusion‐Positive Pediatric Sarcomas

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Clinical sequencing efforts have revolutionized our approaches to categorizing pediatric cancers in real time. This has dramatically improved our ability to profile pediatric tumors, identify actionable vulnerabilities, and influence clinical care.
Lisa H. Hall, Emma N. Harrison, Genevieve C. Kendall   +2 more
wiley   +1 more source