Results 21 to 30 of about 75,211 (110)

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

Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features / Klinična in Molekularna Citogenetska Obravnava Otrok Z Razvojnim Zaostankom in Displastičnimi Znaki

Slovenian Journal of Public Health, 2015
Uvod. Razvojni zaostanek in displastične znake ugotavljamo pri 1-3% otrok. Molekularne citogenetske tehnike z visoko ločljivostjo (CGH- in SNP-mikromreže) so v zadnjih letih postale ključna preiskava v rutinski klinični diagnostiki pri preiskovancih z ...
Bertok Sara, Žerjav Tanšek Mojca, Kotnik Primož, Battelino Tadej, Volk Marija, Pecile Vanna, Cleva Lisa, Gasparini Paolo, Kovač Jernej, Hovnik Tinka   +9 more
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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
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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
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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
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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
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Development and Evaluation of a High-Throughput Single-Nucleotide Polymorphism Array for Large Yellow Croaker (Larimichthys crocea)

Frontiers in Genetics, 2020
High-density single-nucleotide polymorphism (SNP) genotyping array is an essential tool for genetic analyses of animals and plants. Large yellow croaker (Larimichthys crocea) is one of the most commercially important marine fish species in China ...
Tao Zhou, Baohua Chen, Qiaozhen Ke, Qiaozhen Ke, Ji Zhao, Fei Pu, Yidi Wu, Lin Chen, Zhixiong Zhou, Yulin Bai, Ying Pan, Ying Pan, Jie Gong, Weiqiang Zheng, Peng Xu, Peng Xu   +15 more
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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
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Development and application of a 1K functional liquid chip for lactation performance in Bactrian camels

Frontiers in Veterinary Science
IntroductionThe advancement of high-throughput, high-quality, flexible, and cost-effective genotyping platforms is crucial for the progress of dairy breeding in Bactrian camels.
Lili Guo, Lili Guo, Lili Guo, Lema Dao, Bin Liu, Jingyu Wang, Zaixia Liu, Zaixia Liu, Fengying Ma, Fengying Ma, Bielige Morigen, Chencheng Chang, Chencheng Chang, Yinbatu Bai, Yinbatu Bai, Yaqiang Guo, Yaqiang Guo, Caixia Shi, Caixia Shi, Junwei Cao, Junwei Cao, Wenguang Zhang, Wenguang Zhang, Wenguang Zhang   +23 more
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Clinical application of single nucleotide polymorphism array in prenatal diagnosis: Experience with 8753 samples.

PLoS ONE
BackgroundSingle nucleotide polymorphism (SNP) array has been applied to prenatal diagnosis. This study aimed to assess the clinical significance of SNP array in diagnosing fetal chromosomal anomalies based on our experience.MethodsA total of 8753 ...
Li Wen, Yanzhen Zhang, Wen Zhang, Aifen Mao, Xiangjuan Li   +4 more
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