Polymorphic short tandem repeats for diagnosis of the Charcot-Marie-Tooth 1A duplication

P Latour, L Boutrand, N Levy, R Bernard… - Clinical …, 2001 - academic.oup.com
… direct allele-… tandem repeats (STRs) located inside the CMT1A duplicated region that allow
amplification with very low or no stuttering, accurate sizing, and visual quantification of allele

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

E Dolzhenko, V Deshpande, F Schlesinger… - …, 2019 - academic.oup.com
… Short tandem repeats (STRs) are ubiquitous throughout the human genome. Although our
… the alignment paths associated with the presence or absence of each constituent allele. The …

Variation of short tandem repeats within and between populations

W J. Wall, R Williamson, M Petrou… - Human molecular …, 1993 - academic.oup.com
… distributions of three short tandem repeats (STR) were … repeat), llpoprotein llpase (4bp
repeat) and CD4 (5bp repeat). … allele is sized exactly; using four and five base pair repeats

Variable tandem repeats accelerate evolution of coding and regulatory sequences

R Gemayel, MD Vinces, M Legendre… - Annual review of …, 2010 - annualreviews.org
… the tandem repeats (TRs), where each repeat unit is located right next to the other (ie, in
tandem), … , the various iNOS promoter TR alleles have been linked to disease: the 14-repeat unit …

Interpreting short tandem repeat variations in humans using mutational constraint

M Gymrek, T Willems, D Reich, Y Erlich - Nature genetics, 2017 - nature.com
… On the other hand, the squared difference between the numbers of repeats of the two STR
alleles (allele squared distance, or ASD) is a separate function of the TMRCA. The distribution …

Allele-specific transcriptional activity of the variable number of tandem repeats of the inducible nitric oxide synthase gene is associated with idiopathic achalasia

G Sarnelli, M Grosso, I Palumbo… - United European …, 2017 - journals.sagepub.com
… carrying 10 and 13 (CCTTT) repeats, respectively. Sorting into long (12–18) and short (7–11)
alleles in our cohort, we found that long alleles were more frequent in achalasia patients …

Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat

B Brinkmann, M Klintschar, F Neuhuber… - The American Journal of …, 1998 - cell.com
… For example, if one parental allele differed by one repeat and the other by two repeats,
when compared with that of the child, we inferred a one-step mutation. Also, if for structural …

VNTR (variable number of tandem repeat) sequences as transcriptional, translational, or functional regulators

Y Nakamura, K Koyama, M Matsushima - Journal of human genetics, 1998 - nature.com
… As the same amount of mRNA was present among cell lines transfected with plasmids
containing the larger VNTR allele, the shorter VNTR allele, or vector alone, we assumed that the …

[HTML][HTML] … studies and prenatal diagnosis in severe von Willebrand disease by polymerase chain reaction amplification of a variable number tandem repeat region of the …

IR Peake, D Bowen, P Bignell, MB Lidded, JE Sadler… - Blood, 1990 - Elsevier
… sequence flanking the repeat region. Overall, eight different length allelic bands were seen.
… a polymorphic region of ATCT repeats (variable number tandem repeat; VNTR) within intron …

STRipy: A graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing data

A Halman, E Dolzhenko, A Oshlack - Human Mutation, 2022 - Wiley Online Library
… However, we did see a slight underestimation of long alleles, which could be due to some
fully repeat reads containing more sequencing errors than allowed by STRipy's algorithm and …