Results 91 to 100 of about 709,137 (285)

Prediction of Deleterious Nonsynonymous Single-Nucleotide Polymorphism for Human Diseases

TheScientificWorldJournal, 2013
The identification of genetic variants that are responsible for human inherited diseases is a fundamental problem in human and medical genetics. As a typical type of genetic variation, nonsynonymous single-nucleotide polymorphisms (nsSNPs) occurring in ...
Jiaxin Wu, R. Jiang
semanticscholar   +1 more source

dbSNP: a database of single nucleotide polymorphisms [PDF]

Nucleic Acids Research, 2000
In response to a need for a general catalog of genome variation to address the large-scale sampling designs required by association studies, gene mapping and evolutionary biology, the National Cancer for Biotechnology Information (NCBI) has established the dbSNP database. Submissions to dbSNP will be integrated with other sources of information at NCBI
Minghong Ward, Elizabeth M. Smigielski, Karl Sirotkin, Stephen T. Sherry   +3 more
openaire   +3 more sources

The Drosophila genome nexus: a population genomic resource of 623 Drosophila melanogaster genomes, including 197 from a single ancestral range population. [PDF]

, 2015
Hundreds of wild-derived Drosophila melanogaster genomes have been published, but rigorous comparisons across data sets are precluded by differences in alignment methodology.
Cardeno, Charis M, Corbett-Detig, Russell B, Crepeau, Marc W, Lack, Justin B, Langley, Charles H, Pool, John E, Stevens, Kristian A, Taylor, William   +7 more
core   +1 more source

Association of single nucleotide polymorphisms rs7164665, rs71461059, rs74765750, rs6762529 with sudden cardiac death

Российский кардиологический журнал, 2019
Aim. To confirm the association between sudden cardiac death (SCD) and single nucleotide polymorphisms rs7164665, rs71461059, rs74765750, rs6762529, identified in own genome-wide associative study as new molecular genetic markers of SCD.Material and ...
A. A. Ivanova, V. N. Maksimov, S. K. Malutina, V. P. Novoselov, M. I. Voevoda   +4 more
doaj   +1 more source

Estimating Additive and Non-Additive Genetic Variances and Predicting Genetic Merits Using Genome-Wide Dense Single Nucleotide Polymorphism Markers

PLoS ONE, 2012
Non-additive genetic variation is usually ignored when genome-wide markers are used to study the genetic architecture and genomic prediction of complex traits in human, wild life, model organisms or farm animals. However, non-additive genetic effects may
G. Su, O. F. Christensen, T. Ostersen, M. Henryon, M. Lund   +4 more
semanticscholar   +1 more source

A new common functional coding variant at the DDC gene change renal enzyme activity and modify renal dopamine function. [PDF]

, 2019
The intra-renal dopamine (DA) system is highly expressed in the proximal tubule and contributes to Na+ and blood pressure homeostasis, as well as to the development of nephropathy.
Baker, Dewleen G, Biswas, Nilima, González-Sarmiento, Rogelio, Hightower, C Makena, Ichinose, Hiroshi, Kurosaki, Hiroki, León-Jiménez, David, Lipkowitz, Michael S, Mahata, Manjula, Miramontes-Gonzalez, Jose Pablo, Nievergelt, Caroline M, O'Connor, Daniel T, Schork, Andrew J, Vaingankar, Sucheta, Zhang, Kuixing, Ziegler, Michael G   +15 more
core   +2 more sources

Association of apolipoprotein E-219T>G promoter polymorphism with primary open angle glaucoma in Turkish population

International Journal of Ophthalmology, 2014
AIM: To investigate the association between apolipoprotein E (APOE) -219 T>G promoter polymorphism and primary open angle glaucoma (POAG).METHODS: Patients and healthy subjects were genotyped with polymerase chain reaction-restriction fragment length ...
Emel Saglar, Banu Bozkurt, Murat Irkec
doaj   +1 more source

Single-nucleotide polymorphism in the human mu opioid receptor gene alters beta-endorphin binding and activity: possible implications for opiate addiction.

Proceedings of the National Academy of Sciences of the United States of America, 1998
Opioid drugs play important roles in the clinical management of pain, as well as in the development and treatment of drug abuse. The mu opioid receptor is the primary site of action for the most commonly used opioids, including morphine, heroin, fentanyl,
Cherie Bond, K. Laforge, M. Tian, Dorothy Melia, Shengwen Zhang, L. Borg, Jianhua Gong, J. Schluger, J. Strong, S. Leal, J. Tischfield, M. Kreek, Lei Yu   +12 more
semanticscholar   +1 more source

Gene-Based Single Nucleotide Polymorphism Markers for Genetic and Association Mapping in Common Bean

BMC Genetics, 2012
In common bean, expressed sequence tags (ESTs) are an underestimated source of gene-based markers such as insertion-deletions (Indels) or single-nucleotide polymorphisms (SNPs).
Carlos H. Galeano, A. Cortés, Andrea C. Fernandez, Á. Soler, Natalia Franco-Herrera, G. Makunde, J. Vanderleyden, M. Blair   +7 more
semanticscholar   +1 more source

Hypothesis driven single nucleotide polymorphism search (HyDn-SNP-S) [PDF]

, 2013
The advent of complete-genome genotyping across phenotype cohorts has provided a rich source of information for bioinformaticians. However the search for SNPs from this data is generally performed on a study-by-study case without any specific hypothesis ...
Cisneros, G. Andrés, Dyson, Gregory E, Elias, Angela, Miller, Jeffrey A, Swett, Rebecca J   +4 more
core   +2 more sources