Results 71 to 80 of about 122,799 (164)

Large‐scale detection of rare variants via pooled multiplexed next‐generation sequencing: towards next‐generation Ecotilling [PDF]

The Plant Journal, 2011
SummaryCommon variants, such as those identified by genome‐wide association scans, explain only a small proportion of trait variation. Growing evidence suggests that rare functional variants, which are usually missed by genome‐wide association scans, play an important role in determining the phenotype.
MARRONI, FABIO, S. Pinosio, E. D. Centa, JURMAN, Irena, W. Boerjan, FELICE, Nicoletta, F. Cattonaro, MORGANTE, Michele   +7 more
openaire   +3 more sources

Sequence Variants and the Risk of Head and Neck Cancer: Pooled Analysis in the INHANCE Consortium [PDF]

Frontiers in Oncology, 2011
Previous molecular epidemiological studies on head and neck cancer have examined various single nucleotide polymorphisms (SNPs), but there are very few documented associations. In the International head and neck cancer epidemiology (INHANCE) consortium, we evaluated associations between SNPs in the metabolism, cell cycle, and DNA repair pathways and ...
Shu-Chun eChuang, Shu-Chun eChuang, Antonio eAgudo, Wolfgang eAhrens, Devasena eAnantharaman, Simone eBenhamou, Stefania eBoccia, Stefania eBoccia, Chu eChen, David eConway, Eleonora eFabianova, Richard B. Hayes, Claire eHealy, Ivana eHolcatova, Kristina eKjaerheim, Pagona eLagiou, Philip eLazarus, Tatiana V. Macfarlane, Manoj eMahimkar, Dana eMates, Keitaro eMatsuo, Franco eMerletti, Andres eMetspalu, Hal eMorgenstern, Joshua eMuscat, Gabriella eCadoni, Andrew F. Olshan, Mark ePurdue, Heribert eRamroth, Péter eRudnai, Stephen M. Schwartz, Lorenzo eSimonato, Elaine M Smith, Erich M. Sturgis, Neonila eSzeszenia-Dabrowska, Renato eTalamini, Peter eThomsom, Qingyi eWei, David eZaridze, Zuo-Feng eZhang, Ariana eZnaor, Paul eBrennan, Paolo eBoffetta, Paolo eBoffetta, Paolo eBoffetta, Mia eHashibe, Mia eHashibe   +46 more
openaire   +10 more sources

Role of a Gαi2 protein splice variant in the formation of an intracellular dopamine D2 receptor pool [PDF]

Journal of Cell Science, 2007
Treatment of D2-receptor-expressing cells with specific drugs upregulates the receptor number at the cell surface independently of protein synthesis, leading to the concept of an intracellular receptor pool. However, how this pool is operating is still an enigma.
López-Aranda, Manuel Francisco, Acevedo, Maria J., Gutiérrez-Pérez, Antonia, Koulen, Peter, Khan, Zafaruddin   +4 more
openaire   +4 more sources

Deep resequencing of 131 Crohn's disease associated genes in pooled DNA confirmed three reported variants and identified eight novel variants

Gut, 2015
Genome wide association studies (GWAS) and meta-analyses for Crohn's disease (CD) have not fully explained the heritability of CD, suggesting that additional loci are yet to be found and that the known loci may contain high effect rare risk variants that have thus far gone undetected by GWAS.
Sung Noh, Hong, Changho, Park, Soo Jung, Park, Chang Kyun, Lee, Byong Duk, Ye, You Sun, Kim, Seungbok, Lee, Jeesoo, Chae, Jong-Il, Kim, Young-Ho, Kim   +9 more
openaire   +3 more sources

The persistent pool of HIV-1-infected cells is formed episodically during untreated infection

Journal of Virology
Previous studies have shown that the majority of long-lived cells harboring persistent HIV-1 proviral genomes originates from viruses circulating in the year prior to antiretroviral therapy (ART) initiation, but a smaller proportion originates from ...
Olivia D. Council, Lynn Tyers, Matthew Moeser, Amy Sondgeroth, Ean Spielvogel, Brian D. Richardson, Deelan Doolabh, Shuntai Zhou, Ann Emery, Nancie M. Archin, Bonnie Shook-Sa, David M. Margolis, Salim S. Abdool Karim, Sergei Kosakovsky Pond, Nigel Garrett, Melissa-Rose Abrahams, Sarah B. Joseph, Carolyn Williamson, Ronald Swanstrom   +18 more
doaj   +1 more source

Pooled scanning of protein variants identifies novel RNA-binding mutants

ABSTRACTBinding to RNA has been observed for an ever-increasing number of proteins, which often have other functions. The contributions of RNA binding to protein function are best discerned by studying separation-of-function mutants that hamper interaction with RNA without affecting other aspects of protein function.
Julia A. Tasca, John F. Doherty, Emily J. Shields, Shachinthaka Dissanayaka Mudiyanselage, Lauren N. Reich, Kavitha Sarma, Benjamin A. Garcia, Roberto Bonasio   +7 more
openaire   +2 more sources

MitoSort: Robust Demultiplexing of Pooled Single-cell Genomic Data Using Endogenous Mitochondrial Variants

Genomics, Proteomics & Bioinformatics
Abstract Multiplexing across donors has emerged as a popular strategy to increase throughput, reduce costs, overcome technical batch effects, and improve doublet detection in single-cell genomic studies. To eliminate additional experimental steps, endogenous nuclear genome variants are used for demultiplexing pooled single-cell RNA ...
Zhongjie Tang, Weixing Zhang, Peiyu Shi, Sijun Li, Xinhui Li, Yueming Li, Yicong Xu, Yaqing Shu, Zheng Hu, Jin Xu   +9 more
openaire   +2 more sources

Diversity of antibiotic resistance gene variants at subsequent stages of the wastewater treatment process revealed by a metagenomic analysis of PCR amplicons

Frontiers in Genetics
Wastewater treatment plants have been recognised as point sources of various antibiotic-resistant bacteria (ARB) and antibiotic resistance genes (ARG) which are considered recently emerging biological contaminants.
Adrian Gorecki, Piotr Ostapczuk, Lukasz Dziewit   +2 more
doaj   +1 more source

Nucleotide Pool Depletion Induces G-Quadruplex-Dependent Perturbation of Gene Expression

Cell Reports, 2015
Nucleotide pool imbalance has been proposed to drive genetic instability in cancer. Here, we show that slowing replication forks by depleting nucleotide pools with hydroxyurea (HU) can also give rise to both transient and permanent epigenetic instability
Charikleia Papadopoulou, Guillaume Guilbaud, Davide Schiavone, Julian E. Sale   +3 more
doaj   +1 more source

Convolutional Neural Networks: A Comprehensive Evaluation and Benchmarking of Pooling Layer Variants

Symmetry
Convolutional Neural Networks (CNNs) are a class of deep neural networks that have proven highly effective in areas such as image and video recognition. CNNs typically include several types of layers, such as convolutional layers, activation layers, pooling layers, and fully connected layers, all of which contribute to the network’s ability to ...
Afia Zafar, Noushin Saba, Ali Arshad, Amerah Alabrah, Saman Riaz, Mohsin Suleman, Shahneer Zafar, Muhammad Nadeem   +7 more
openaire   +1 more source