Results 81 to 90 of about 5,554,112 (362)

Highly multiplexed digital PCR assay for simultaneous quantification of variant allele frequencies and copy number alterations of KRAS and GNAS in pancreatic cancer precursors

Molecular Oncology, EarlyView.
Combining melting curve analysis enhances the multiplexing capability of digital PCR. Here, we developed a 14‐plex assay to simultaneously measure single nucleotide mutations and amplifications of KRAS and GNAS, which are common driver genes in pancreatic cancer precursors. This assay accurately quantified variant allele frequencies in clinical samples
Junko Tanaka, Tatsuo Nakagawa, Yusuke Ono, Yoshio Kamura, Takeshi Ishida, Hidemasa Kawabata, Kenji Takahashi, Hiroki Sato, Andrew S. Liss, Yusuke Mizukami, Takahide Yokoi   +10 more
wiley   +1 more source

Variation across the allele frequency spectrum

Nature Genetics, 2010
A new study finds that individuals with high plasma triglyceride levels carry approximately twice as many rare, coding genetic variants within four candidate genes identified through genome-wide association studies than individuals without these high levels.
Gloyn, A, McCarthy, M
openaire   +3 more sources

Variation of mutant allele frequency in NRAS Q61 mutated melanomas

BMC Dermatology, 2017
BackgroundSomatic mutations of BRAF or NRAS activating the MAP kinase cell signaling pathway are present in 70% of cutaneous melanomas. The mutant allele frequency of BRAF V600E (M%BRAF) was recently shown to be highly heterogeneous in melanomas.
Z. Hélias‐Rodzewicz, E. Funck-Brentano, Nathalie Terrones, A. Beauchet, U. Zimmermann, C. Marin, P. Saiag, J. Emile   +7 more
semanticscholar   +1 more source

Comparing self‐reported race and genetic ancestry for identifying potential differentially methylated sites in endometrial cancer: insights from African ancestry proportions using machine learning models

Molecular Oncology, EarlyView.
Integrating ancestry, differential methylation analysis, and machine learning, we identified robust epigenetic signature genes (ESGs) and Core‐ESGs in Black and White women with endometrial cancer. Core‐ESGs (namely APOBEC1 and PLEKHG5) methylation levels were significantly associated with survival, with tumors from high African ancestry (THA) showing ...
Huma Asif, J. Julie Kim
wiley   +1 more source

Allele and genotype frequencies of CYP2B6 in a Turkish population [PDF]

Molecular Biology Reports, 2014
Increasing interest in cytochrome P450 2B6 (CYP2B6) genetic polymorphism was stimulated by revelations of a specific CYP2B6 genotype significantly affecting the metabolism of various drugs in common clinical use in terms of increasing drug efficacy and avoiding adverse drug reactions.
Yuce-Artun, Nazan, Kose, Gulcin, Suzen, H. Sinan   +2 more
openaire   +3 more sources

Estimating the Effective Population Size from Temporal Allele Frequency Changes in Experimental Evolution

Genetics, 2016
The effective population size (Ne) is a major factor determining allele frequency changes in natural and experimental populations. Temporal methods provide a powerful and simple approach to estimate short-term Ne. They use allele frequency shifts between
Ágnes Jónás, Thomas Taus, C. Kosiol, C. Schlötterer, A. Futschik   +4 more
semanticscholar   +1 more source

A large‐scale retrospective study in metastatic breast cancer patients using circulating tumour DNA and machine learning to predict treatment outcome and progression‐free survival

Molecular Oncology, EarlyView.
There is an unmet need in metastatic breast cancer patients to monitor therapy response in real time. In this study, we show how a noninvasive and affordable strategy based on sequencing of plasma samples with longitudinal tracking of tumour fraction paired with a statistical model provides valuable information on treatment response in advance of the ...
Emma J. Beddowes, Mario Ortega Duran, Solon Karapanagiotis, Alistair Martin, Meiling Gao, Riccardo Masina, Ramona Woitek, James Tanner, Fleur Tippin, Justine Kane, Jonathan Lay, Anja Brouwer, Stephen‐John Sammut, Suet‐Feung Chin, Davina Gale, Dana W. Y. Tsui, Sarah‐Jane Dawson, Nitzan Rosenfeld, Maurizio Callari, Oscar M. Rueda, Carlos Caldas   +20 more
wiley   +1 more source

High-throughput estimation of allele frequencies using combined pooled-population sequencing and haplotype-based data processing

Plant Methods, 2022
Background In addition to heterogeneity and artificial selection, natural selection is one of the forces used to combat climate change and improve agrobiodiversity in evolutionary plant breeding. Accurate identification of the specific genomic effects of
Michael Schneider, Asis Shrestha, Agim Ballvora, Jens Léon   +3 more
doaj   +1 more source

The genetic contribution of single male immigrants to small, inbred populations: A laboratory study using drosophila melanogaster [PDF]

, 2000
This study examined the genetic contribution of single male immigrants to small, inbred laboratory populations of Drosophila melanogaster. Genetic contribution was assessed by measuring the relative frequency of immigrant marker alleles in the first and ...
B Grant, B Kaufman, D Charlesworth, D Spielman, DG Gilbert, EH Bryant, I Hanski, JG Oakeshott, JH Brown, MC Rossiter, MC Whitlock, MS Gaines, P Knoppien, P Sinnock, R Lande, RS Singh, S Wright, TA Markow   +17 more
core   +1 more source

Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal‐like and malignant urothelial cells

Molecular Oncology, EarlyView.
Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser, Florian Krumbach, Eyleen Corrales, Geoffroy Andrieux, Christian Preisinger, Franziska Liss, Alexandra Golzmann, Melanie Boerries, Kerstin Becker, Ruth Knüchel, Stefan Garczyk, Bernhard Lüscher   +11 more
wiley   +1 more source