Results 71 to 80 of about 524,252 (269)

Multiplex SNP Discrimination [PDF]

Biophysical Journal, 2007
Multiplex hybridization reactions of perfectly matched duplexes and duplexes containing a single basepair mismatch (SNPs) were investigated on DNA microarrays. Effects of duplex length, G-C percentage, and relative position of the SNP on duplex hybridization and SNP resolution were determined. Our theoretical model of multiplex hybridization accurately
Fish, Daniel J., Horne, M. Todd, Searles, Robert P., Brewood, Greg P., Benight, Albert S.   +4 more
openaire   +3 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

Human platelet antigen polymorphisms and the risk of chronic Chagas disease cardiomyopathy

Platelets, 2020
Human platelet antigen (HPA) polymorphisms are considered to be a risk factor for cardiac and vascular diseases, but the role of HPA in chronic Chagas disease cardiomyopathy (CCC) is not available.
Deborah Elzita do Carmo Corrêa, Christiane Maria Ayo, Jeane Eliete Laguila Visentainer, Eliane Papa Ambrosio-Albuquerque, Pâmela Guimarães Reis, Cinara Cássia Brandão de Mattos, Reinaldo Bulgarelli Bestetti, Luiz Carlos de Mattos, Ana Maria Sell   +8 more
doaj   +1 more source

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

Association of Candidate Single Nucleotide Polymorphisms Related to Candidate Genes in Patients With Schizophrenia

Basic and Clinical Neuroscience, 2020
Introduction: Schizophrenia is a chronic heterogenic neurodevelopment disorder. Many genes interfere in the development of SCZ. All four genes, NrCAM, PRODH, ANK3, and ANKK1, which were evaluated in this study, were previously reported to be associated ...
Seyedeh Sara Karimian, Mohammad Taghi Akbari, Seyed Saeed Sadr, Gholamreza Javadi   +3 more
doaj  

Polymorphism identification and improved genome annotation of Brassica rapa through Deep RNA sequencing. [PDF]

, 2014
The mapping and functional analysis of quantitative traits in Brassica rapa can be greatly improved with the availability of physically positioned, gene-based genetic markers and accurate genome annotation.
Covington, Michael F, Devisetty, Upendra Kumar, Lekkala, Saradadevi, Maloof, Julin N, Tat, An V   +4 more
core   +1 more source

SNP-o-matic [PDF]

Bioinformatics, 2009
Abstract Motivation: High throughput sequencing technologies generate large amounts of short reads. Mapping these to a reference sequence consumes large amounts of processing time and memory, and read mapping errors can lead to noisy or incorrect alignments. SNP-o-matic is a fast, memory-efficient and stringent read mapping tool offering
Manske, H, Kwiatkowski, D
openaire   +3 more sources

Shared Genetic Effects and Antagonistic Pleiotropy Between Multiple Sclerosis and Common Cancers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epidemiologic studies have reported inconsistent altered cancer risk in individuals with multiple sclerosis (MS). Factors such as immune dysregulation, comorbidities, and disease‐modifying therapies may contribute to this variability.
Asli Buyukkurt, Marius Ygonia, Ali Manouchehrinia, Philippe Lefrançois, Ingrid Kockum, Adil Harroud   +5 more
wiley   +1 more source

Range-wide parallel climate-associated genomic clines in Atlantic salmon [PDF]

Royal Society Open Science, 2017
Clinal variation across replicated environmental gradients can reveal evidence of local adaptation, providing insight into the demographic and evolutionary processes that shape intraspecific diversity.
Nicholas W. Jeffery, Ryan R. E. Stanley, Brendan F. Wringe, Javier Guijarro-Sabaniel, Vincent Bourret, Louis Bernatchez, Paul Bentzen, Robert G. Beiko, John Gilbey, Marie Clément, Ian R. Bradbury   +10 more
doaj   +1 more source

Population genomics of the Asian tiger mosquito, Aedes albopictus. Insights into the recent worldwide invasion [PDF]

, 2017
Aedes albopictus, the “Asian tiger mosquito,” is an aggressive biting mosquito native to Asia that has colonized all continents except Antarctica during the last ~30–40 years. The species is of great public health
Aguirre-Obando, Alexander, Armbruster, Baird, Becker, Beebe, Benedict, Birungi, Bonizzoni, Brady, Brown, Chen, Chen, Chouin-Carneiro, Dalla Pozza, Damal, Danecek, Das, Delatte, Denlinger, Eaton, Egizi, Emerson, Excoffier, Flacio, Foll, Frichot, Galtier, Gloria-Soria, Goubert, Gratz, Hawley, Hemingway, Hurst, Ismail, Jackson, Jombart, Kambhampati, Kambhampati, Kamgang, Kamgang, Kasai, Lamballerie, Lambrechts, Langmead, Lewis, Li, Lischer, Liu, Lounibos, Lounibos, Lourenco de Oliveira, Luu, Manni, Manni, Marcombe, Maynard, Medley, Medlock, Minard, Morens, Mori, Mousson, Nazareno, O'Donnell, Patterson, Paupy, Pech-May, Peterson, Porretta, Porretta, Powell, Puckett, Reiter, Smartt, Sprenger, Stamatakis, Tatem, Trucchi, Urbanelli, Urbanski, Willing, Wong, Wray, Wu, Xu, Zhong   +86 more
core   +2 more sources