Results 41 to 50 of about 1,520,842 (344)

SNPs ANALYSIS AS A TOOL IN MOLECULAR GENETICS DIAGNOSTICS

Majalah Kedokteran Andalas, 2015
AbstrakSingle Nucleotide Polymorphism (SNP) merupakan variasi genetik yang ditemukan pada lebih dari 1% populasi. Haplotipe, yang merupakan sekelompok SNP atau alel dalam satu kromosom, dapat di turunkan ke generasi selanjutnya dan dapat digunakan untuk ...
Dewi Rusnita
doaj   +1 more source

Genotyping and annotation of Affymetrix SNP arrays

Nucleic Acids Research, 2006
In this paper we develop a new method for genotyping Affymetrix single nucleotide polymorphism (SNP) array. The method is based on (i) using multiple arrays at the same time to determine the genotypes and (ii) a model that relates intensities of individual SNPs to each other.
Carsten Wiuf, Carsten Wiuf, Claus L. Andersen, Philippe Lamy, Friedrik P. Wikman   +4 more
openaire   +3 more sources

Fetal genetic findings by chromosomal microarray analysis and karyotyping for fetal growth restriction without structural malformations at a territory referral center: 10-year experience

BMC Pregnancy and Childbirth, 2023
Background Prenatal invasive genetic testing is commonly recommended to pregnancies of early-onset FGR or FGR combined with a structural defect. Our study aimed to explore the genetic findings for FGR without structural malformations according to ...
Xiaoqing Wu, Shuqiong He, Ying Li, Danhua Guo, Xuemei Chen, Bin Liang, Meiying Wang, Hailong Huang, Liangpu Xu   +8 more
doaj   +1 more source

Identification of SNP-containing regulatory motifs in the myelodysplastic syndromes model using SNP arrays and gene expression arrays [PDF]

Chinese Journal of Cancer, 2013
Myelodysplastic syndromes have increased in frequency and incidence in the American population, but patient prognosis has not significantly improved over the last decade. Such improvements could be realized if biomarkers for accurate diagnosis and prognostic stratification were successfully identified. In this study, we propose a method that associates
Fan, Jing, Dy, Jennifer G., Chang, Chung-Che, Zhou, Xiaoboo   +3 more
openaire   +4 more sources

Development and validation of a 20K single nucleotide polymorphism (SNP) whole genome genotyping array for apple (Malus × domestica Borkh). [PDF]

PLoS ONE, 2014
High-density SNP arrays for genome-wide assessment of allelic variation have made high resolution genetic characterization of crop germplasm feasible. A medium density array for apple, the IRSC 8K SNP array, has been successfully developed and used for ...
Luca Bianco, Alessandro Cestaro, Daniel James Sargent, Elisa Banchi, Sophia Derdak, Mario Di Guardo, Silvio Salvi, Johannes Jansen, Roberto Viola, Ivo Gut, Francois Laurens, David Chagné, Riccardo Velasco, Eric van de Weg, Michela Troggio   +14 more
doaj   +1 more source

Utilization of a Wheat660K SNP array-derived high-density genetic map for high-resolution mapping of a major QTL for kernel number

Scientific Reports, 2017
In crop plants, a high-density genetic linkage map is essential for both genetic and genomic researches. The complexity and the large size of wheat genome have hampered the acquisition of a high-resolution genetic map.
F. Cui, N. Zhang, Xiaoyan Fan, Wei Zhang, Chun-hua Zhao, Li-juan Yang, Rui-qing Pan, Mei Chen, Jie Han, Xueqiang Zhao, J. Ji, Y. Tong, Hong-xia Zhang, J. Jia, Guang-yao Zhao, Junming Li   +15 more
semanticscholar   +1 more source

A forward-backward fragment assembling algorithm for the identification of genomic amplification and deletion breakpoints using high-density single nucleotide polymorphism (SNP) array

BMC Bioinformatics, 2007
Background DNA copy number aberration (CNA) is one of the key characteristics of cancer cells. Recent studies demonstrated the feasibility of utilizing high density single nucleotide polymorphism (SNP) genotyping arrays to detect CNA.
Bailey Dione K, Jacobs Sharoni, Chen Zugen, Li Ker-Chau, Sun Wei, Ye Hui, Yu Tianwei, Wong David T, Zhou Xiaofeng   +8 more
doaj   +1 more source

Clinical Utility and the Yield of Single Nucleotide Polymorphism Array in Prenatal Diagnosis of Fetal Central Nervous System Abnormalities

Frontiers in Molecular Biosciences, 2021
Applying single nucleotide polymorphism (SNP) array to identify the etiology of fetal central nervous system (CNS) abnormality, and exploring its association with chromosomal abnormalities, copy number variations, and obstetrical outcome.
Meiying Cai, Hailong Huang, Liangpu Xu, Na Lin   +3 more
doaj   +1 more source

High concordance between next-generation sequencing and single-nucleotide polymorphism array in preimplantation genetic testing for aneuploidy

Clinical and Experimental Obstetrics & Gynecology, 2022
Background: This study aimed to compare the use of next-generation sequencing (NGS) and single-nucleotide polymorphism (SNP) array in preimplantation genetic testing for aneuploidy (PGT-A) in the same blastocyst.
Zhanhui Ou, Zhiheng Chen, Yu Deng, Ling Sun   +3 more
doaj   +1 more source

Assessing runs of Homozygosity: a comparison of SNP Array and whole genome sequence low coverage data

BMC Genomics, 2017
Runs of Homozygosity (ROH) are genomic regions where identical haplotypes are inherited from each parent. Since their first detection due to technological advances in the late 1990s, ROHs have been shedding light on human population history and ...
F. Ceballos, S. Hazelhurst, M. Ramsay
semanticscholar   +1 more source