Results 61 to 70 of about 746,762 (326)

Quantifying single nucleotide variant detection sensitivity in exome sequencing [PDF]

, 2013
BACKGROUND: The targeted capture and sequencing of genomic regions has rapidly demonstrated its utility in genetic studies. Inherent in this technology is considerable heterogeneity of target coverage and this is expected to systematically impact our ...
A McKenna, AJ Coffey, Alison M Meynert, AM Sulonen, Andrew P Jackson, B Lehne, B Timmermann, DN Cooper, E Kalay, H Li, H Li, J Parla, JF Degner, JK Teer, K Fransen, KK Mantripragada, Louise S Bicknell, M Choi, MA Depristo, Martin S Taylor, Matthew E Hurles, MD Mailman, MJ Clark, MN Bainbridge, MW Hahn, R Leinonen, RA Harte, RE Thurman, SB Ng, SB Ng, SB Ng, SS Ajay, The International HapMap 3 Consortium, Y Li, Y Xu   +34 more
core   +2 more sources

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

Longitudinal circulating tumor DNA profiling in patients with advanced endometrial cancer using an off‐the‐shelf targeted NGS panel

Molecular Oncology, EarlyView.
Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena, Karin Teien Lande, Eva Diaz, Ana Vilar, Juan Cueva, Efigenia Arias, Victoria Sampayo, Alicia Abalo, Nerea González, Eva Colás, Antonio Gil‐Moreno, Miguel Abal, Gema Moreno‐Bueno, Therese Sørlie, Kristina Lindemann, Laura Muinelo‐Romay   +15 more
wiley   +1 more source

Aggregation of Single Nucleotide Polymorphisms in a Human H5N1 Clade 2.2 Hemagglutinin [PDF]

, 2007
The evolution of H5N1 has attracted significant interest 1-4 due to linkages with avian 5,6 and human infections 7,8. The basic tenets of influenza genetics 9 attribute genetic drift to replication errors caused by a polymerase complex that lacks a ...
Abdelattar Arafa, Ahmed E. Nayel, Ahmed S. Abdelghani, Bruce R. Boynton, Ehab A. Ayoub, Emad M. Labib, Gregory A. Raczniak, Hala M. Esmat, Henry L. Niman, Jeffery Tjaden, Kenneth C. Earhart, Magdi D. Saad, Marshall R. Monteville, Mensah Agyen-Frempong, Mona M. Aly, Moustafa M. Mansour, Nasr El-Sayed, William K. Ampofo   +17 more
core   +2 more sources

Genetic variation of TLR4 influences immunoendocrine stress response: an observational study in cardiac surgical patients [PDF]

, 2011
Introduction: Systemic inflammation (e.g. following surgery) involves Toll-like receptor (TLR) signaling and leads to an endocrine stress response. This study aims to investigate a possible influence of TLR2 and TLR4 single nucleotide polymorphisms (SNPs)
Koch, Alexander, Hamann, Lutz, Schott, Matthias, Boehm, Olaf, Grotemeyer, Dirk, Kurt, Muhammed, Schwenke, Carsten, Schumann, Ralf R., Bornstein, Stefan R., Zacharowski, Kai   +9 more
core   +1 more source

DNA methylation and expression of MAPRE3 affect overall survival of early‐stage non‐small cell lung cancer patients

Molecular Oncology, EarlyView.
Both cg12821679MAPRE3 methylation and MAPRE3 expression are significantly associated with overall survival (OS) of non‐small cell lung cancer. Meanwhile, MAPRE3 expression significantly modified the effect of smoking cessation on OS. Smoking cessation benefits OS merely for patients with high MAPRE3 expression.
Chao Chen, Jiancheng Cheng, Ruili Hou, Xiaoyuan Zheng, Li Su, Maria Moksnes Bjaanæs, Anna Karlsson, Maria Planck, Johan Staaf, Åslaug Helland, Manel Esteller, David C. Christiani, Feng Chen, Xiaofei Cao, Ruyang Zhang   +14 more
wiley   +1 more source

Simulasi Metode Statistik untuk Seleksi Single Nucleotide Polymorphism

Biotropika: Journal of Tropical Biology, 2019
Kemajuan teknologi sekuensing menyebabkan peningkatan ketersediaan sekuen genom organisme. Ribuan strain dan isolat dari berbagai populasi organisme telah diisolasi serta diketahui sekuen genomnya.
Mohamad Ikhsan Nurulloh, Hidayat Trimarsanto, Yustinus Ulung Anggraito, Endah Peniati, R Susanti   +4 more
doaj   +1 more source

Detection of Single Nucleotide Polymorphisms [PDF]

Current Issues in Molecular Biology, 2003
Single nucleotide polymorphism (SNP) detection technologies are used to scan for new polymorphisms and to determine the allele(s) of a known polymorphism in target sequences. SNP detection technologies have evolved from labor intensive, time consuming, and expensive processes to some of the most highly automated, efficient, and relatively inexpensive ...
Kwok, Pui-Yan, Chen, Xiangning
openaire   +2 more sources

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

FEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon, Angéla Békesi, Latifa Kazzazy, Jázmin Mihály, Máté Varga, Beáta G. Vértessy, Kinga Nyíri   +6 more
wiley   +1 more source

Next generation sequencing reveals the antibiotic resistant variants in the genome of Pseudomonas aeruginosa [PDF]

, 2017
Rapid progress in next generation sequencing and allied computational tools have aided in identification of single nucleotide variants in genomes of several organisms. In the present study, we have investigated single nucleotide polymorphism (SNP) in ten
Ramanathan, Babu *
core   +1 more source