Results 1 to 10 of about 21,570 (220)

A Quantitative Evaluation of MIRU-VNTR Typing Against Whole-Genome Sequencing for Identifying Mycobacterium tuberculosis Transmission: A Prospective Observational Cohort Study

EBioMedicine, 2018
Background: Mycobacterial Interspersed Repetitive Unit-Variable Number Tandem Repeat (MIRU-VNTR) typing is widely used in high-income countries to determine Mycobacterium tuberculosis relatedness. Whole-genome sequencing (WGS) is known to deliver greater
Derrick Crook, C N J Campbell, David Wyllie   +2 more
exaly   +4 more sources

Comparison between RFLP and MIRU-VNTR genotyping of Mycobacterium tuberculosis strains isolated in Stockholm 2009 to 2011. [PDF]

PLoS ONE, 2014
Our aim was to analyze the difference between methods for genotyping of Mycobacterium tuberculosis complex isolates. We collected genotyping results from Restriction Fragment Length Polymorphism (RFLP) and Mycobacterial Interspersed Repetitive Units ...
Jerker Jonsson, Sven Hoffner, Ingela Berggren, Judith Bruchfeld, Solomon Ghebremichael, Alexandra Pennhag, Ramona Groenheit   +6 more
doaj   +2 more sources

Evaluation of spoligotyping, SNPs and customised MIRU-VNTR combination for genotyping Mycobacterium tuberculosis clinical isolates in Madagascar.

PLoS ONE, 2017
BackgroundCombining different molecular typing methods for Mycobacterium tuberculosis complex (MTBC) can be a powerful tool for molecular epidemiology-based investigation of TB. However, the current standard method that provides high discriminatory power
Rondroarivelo Rasoahanitralisoa, Niaina Rakotosamimanana, David Stucki, Christophe Sola, Sebastien Gagneux, Voahangy Rasolofo Razanamparany   +5 more
doaj   +2 more sources

An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease

Acta Neuropathologica, 2018
Mutations leading to premature termination codons in ATP-Binding Cassette Subfamily A Member 7 (ABCA7) are high penetrant risk factors of Alzheimer’s disease (AD).
Arne De Roeck, Rik Vandenberghe, Rita Cacace   +2 more
exaly   +2 more sources

Direct PCR‐Based VNTR Analysis of TPO Intron 10 for Rapid Detection of Maternal Cell Contamination in Prenatal Diagnosis [PDF]

Clinical and Translational Science
Maternal cell contamination (MCC) in fetal specimens poses a major risk for misdiagnosis in prenatal genetic testing. Standard variable number tandem repeat (VNTR) analysis of the thyroid peroxidase (TPO) gene intron 10 is informative for MCC detection ...
Phongsathorn Wichian, Apisit Pattrakorn, Supan Fucharoen, Hataichanok Srivorakun, Simaporn Prommetta, Supawadee Yamsri   +5 more
doaj   +2 more sources

Evolutionary history of the PER3 variable number of tandem repeats (VNTR): idiosyncratic aspect of primate molecular circadian clock. [PDF]

PLoS ONE, 2014
The PER3 gene is one of the clock genes, which function in the core mammalian molecular circadian system. A variable number of tandem repeats (VNTR) locus in the 18th exon of this gene has been strongly associated to circadian rhythm phenotypes and sleep
Flávia Cal Sabino, Amanda Oliveira Ribeiro, Sérgio Tufik, Laila Brito Torres, José Américo Oliveira, Luiz Eugênio Araújo Moraes Mello, Jeferson Souza Cavalcante, Mario Pedrazzoli   +7 more
doaj   +2 more sources

Genome-wide investigation of VNTR motif polymorphisms in 8,222 genomes: Implications for biological regulation and human traits

Cell Genomics
Summary: Variable number tandem repeat (VNTR) is a pervasive and highly mutable genetic feature that varies in both length and repeat sequence. Despite the well-studied copy-number variants, the functional impacts of repeat motif polymorphisms remain ...
Shunmin He, Song Tingrui
exaly   +3 more sources

Genotypic diversity analysis of Mycobacterium tuberculosis strains collected from Beijing in 2009, using spoligotyping and VNTR typing.

PLoS ONE, 2014
BackgroundTuberculosis (TB) is a serious problem in China. While there have been some studies on the nationwide genotyping of Mycobacterium tuberculosis (M.
Yi Liu, Miao Tian, Xueke Wang, Rongrong Wei, Qing Xing, Tizhuang Ma, Xiaoying Jiang, Wensheng Li, Zhiguo Zhang, Yu Xue, Xuxia Zhang, Wei Wang, Tao Wang, Feng Hong, Junjie Zhang, Sumin Wang, Chuanyou Li   +16 more
doaj   +2 more sources

VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease

iScience, 2023
Summary The human genome comprises approximately 3% of tandem repeats with variable length (VNTR), a few of which have been linked to human rare diseases.
Hassan Saei, V. Moriniére, L. Heidet, O. Gribouval, S. Lebbah, F. Tores, Manon Mautret-Godefroy, B. Knebelmann, S. Burtey, Vincent Vuiblet, C. Antignac, P. Nitschké, G. Dorval   +12 more
semanticscholar   +1 more source

Mechanisms of disease-associated SINE-VNTR-Alus

Experimental biology and medicine, 2022
SINE-VNTR-Alus (SVAs) are the youngest retrotransposon family in the human genome. Their ongoing mobilization has generated genetic variation within the human population.
A. Pfaff, Lewis M Singleton, S. Kõks
semanticscholar   +1 more source