Results 31 to 40 of about 724,526 (380)

Software for tag single nucleotide polymorphism selection

Human Genomics, 2005
This paper reviews the theoretical basis for single nucleotide polymorphism (SNP) tagging and considers the use of current software made freely available for this task. A distinction between haplotype block-based and non-block-based approaches yields two
Stram Daniel O
doaj   +1 more source

Clinical experience with a single‐nucleotide polymorphism‐based non‐invasive prenatal test for five clinically significant microdeletions

Clinical Genetics, 2018
Single‐nucleotide polymorphism (SNP)‐based non‐invasive prenatal testing (NIPT) can currently predict a subset of submicroscopic abnormalities associated with severe clinical manifestations.
K. Martin, Sushma Iyengar, Akshita Kalyan, Christine Lan, Alexander L. Simon, M. Stosic, Katie Kobara, Harini Ravi, Tina Truong, A. Ryan, Z. Demko, P. Benn   +11 more
semanticscholar   +1 more source

The Interleukin-1 (IL-1) Superfamily Cytokines and Their Single Nucleotide Polymorphisms (SNPs)

Journal of Immunological Research, 2022
Interleukins (ILs)—which are important members of cytokines—consist of a vast group of molecules, including a wide range of immune mediators that contribute to the immunological responses of many cells and tissues.
P. Behzadi, A. Sameer, S. Nissar, M. Banday, M. Gajdács, H. García‐Perdomo, Kulsum Akhtar, M. Pinheiro, Peter Magnusson, M. Sarshar, C. Ambrosi   +10 more
semanticscholar   +1 more source

The C242T polymorphism of the NAD(P)H oxidase p22(phox) subunit is associated with an enhanced risk for cerebrovascular disease at a young age [PDF]

, 2008
Background and Purpose: Oxidative stress has been proposed as a major contributing factor for vascular disease, that acts independently from its participation in predisposing disorders such as diabetes and arterial hypertension.
Genius, Just, Grau, Armin J., Lichy, Christoph   +2 more
core   +1 more source

Identifying the similarities and differences between single nucleotide polymorphism array (SNPa) analysis and karyotyping in acute myeloid leukemia and myelodysplastic syndromes

Revista Brasileira de Hematologia e Hemoterapia, 2015
Objective: To standardize the single nucleotide polymorphism array (SNPa) method in acute myeloid leukemia/myelodysplastic syndromes, and to identify the similarities and differ- ences between the results of this method and karyotyping.
Thiago Rodrigo de Noronha, Sandra Serson Rohr, Maria de Lourdes Lopes Ferrari Chauffaille   +2 more
doaj   +1 more source

A novel DRD2 single-nucleotide polymorphism associated with schizophrenia predicts age of onset: HapMap tag-sincle-nucleotide polymorphism analysis [PDF]

, 2012
Background: Dopamine D2 receptor (DRD2) is thought to be critical in regulating the dopaminergic pathway in the brain which is known to be important in the aetiology of schizophrenia. It is therefore not surprising that most antipsychotic medication acts
Hughes, Ian, Lawford, Bruce, Morris, Phillip, Swagell, Christopher, Voisey, Joanne, Young, Ross   +5 more
core   +2 more sources

Heterogeneous lengths of copy number mutations in human coagulopathy revealed by genome-wide high-density SNP array

Haematologica, 2012
Background The recent advent of genome-wide molecular platforms has facilitated our understanding of the human genome and disease, particularly copy number aberrations.
Hee-Jin Kim, Duk-Kyung Kim, Ki-Young Yoo, Chur-Woo You, Jong-Ha Yoo, Ki-O Lee, In-Ae Park, Hae-Sun Choung, Hee-Jung Kim, Min-Jung Song, Sun-Hee Kim   +10 more
doaj   +1 more source

Bulk segregant analysis using single nucleotide polymorphism microarrays. [PDF]

PLoS ONE, 2011
Bulk segregant analysis (BSA) using microarrays, and extreme array mapping (XAM) have recently been used to rapidly identify genomic regions associated with phenotypes in multiple species.
Anthony Becker, Dai-Yin Chao, Xu Zhang, David E Salt, Ivan Baxter   +4 more
doaj   +1 more source

Detection of Single Nucleotide Polymorphism Rs2013162 of IRF6 Gene in Patient with Cleft Lip and Palate [PDF]

, 2019
Background: Cleft lip and palate are congenital disorders which induce affected individuals medically, socially and psychologically. The objective of this study was to investigate the association of Single Nucleotide Polymorphism(SNP); rs2013162 of ...
Shehzad, H. (Husnain), Shehzad, O. (Osheen)   +1 more
core   +4 more sources

Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome

Ultrasound in Obstetrics and Gynecology, 2016
To evaluate the performance of a single‐nucleotide polymorphism (SNP)‐based non‐invasive prenatal test (NIPT) for the detection of fetal 22q11.2 deletion syndrome in clinical practice, assess clinical follow‐up and review patient choices for women with ...
S. Gross, M. Stosic, D. McDonald-McGinn, A. Bassett, A. Norvez, R. Dhamankar, Katie Kobara, E. Kırkızlar, B. Zimmermann, N. Wayham, Joshua Babiarz, A. Ryan, Kristine N. Jinnett, Z. Demko, P. Benn   +14 more
semanticscholar   +1 more source