Results 21 to 30 of about 710,894 (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

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

Association of the leptin receptor Q223R (rs1137101) polymorphism with obesity measures in Sri Lankans [PDF]

, 2020
OBJECTIVE: The role of genetic factors in the development of obesity is largely unreported in Sri Lankans. The Q223R (rs1137101) single nucleotide polymorphism (SNP) of the leptin receptor (LEPR) gene has been associated with obesity measures in various ...
Dalton, C.F., Fernando, D.J., Illangasekera, Y.A., Kumarasiri, P.V.R.   +3 more
core   +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

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

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

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

Association of Single Nucleotide Polymorphisms in the PYGO2 and PRDM9 Genes with Idiopathic Azoospermia in Iranian Infertile Male Patients [PDF]

Iranian Journal of Medical Sciences, 2023
Background: Azoospermia is a risk factor for infertility affecting approximately 1% of the male population. Genetic factors are associated with non-obstructive azoospermia (NOA). Pygo2 and PRDM9 genes are involved in the spermatogenesis process.
Sanaz Soleymani Moud, Katayun Kamali Seraji, Mina Ramezani, Zeynab Piravar   +3 more
doaj   +1 more source

Simultaneous profiling of transcriptome and DNA methylome from a single cell. [PDF]

, 2016
BackgroundSingle-cell transcriptome and single-cell methylome technologies have become powerful tools to study RNA and DNA methylation profiles of single cells at a genome-wide scale. A major challenge has been to understand the direct correlation of DNA
An, Qin, Du, Guizhen, Fan, Guoping, Hu, Ganlu, Hu, Youjin, Huang, Kevin, Wang, Cun-Yu, Xue, Jinfeng, Xue, Zhigang, Zhu, Xianmin   +9 more
core   +3 more sources

p53 codon 72 polymorphism in Taiwanese breast cancer patients

Kaohsiung Journal of Medical Sciences, 2013
There are clear discrepancies between ethnicity and geographic area regarding the peak age incidence and mortality of breast cancer. Underlying variances include genetic, environmental, and socioeconomic factors.
Fang-Ming Chen, Fu Ou-Yang, Sheau-Fang Yang, Eing-Mei Tsai, Ming-Feng Hou   +4 more
doaj   +1 more source