The accuracy, feasibility and challenges of sequencing short tandem repeats using next-generation sequencing platforms
M Zavodna, A Bagshaw, R Brauning, NJ Gemmell - PLoS One, 2014 - journals.plos.org
… We found that the microsatellite attributes copy number, repeat motif and type of mutation …
-read and short-read NGS platforms can be used to sequence short tandem repeats accurately, …
-read and short-read NGS platforms can be used to sequence short tandem repeats accurately, …
FLT3/D835Y mutation knock-in mice display less aggressive disease compared with FLT3/internal tandem duplication (ITD) mice
E Bailey, L Li, AS Duffield, HS Ma… - Proceedings of the …, 2013 - National Acad Sciences
… in signal transduction between FLT3/KD and FLT3/ITD mutations may help explain the
distinctive disease progression and prognosis in leukemias harboring these mutations. …
distinctive disease progression and prognosis in leukemias harboring these mutations. …
SNPs, short tandem repeats, and structural variants are responsible for differential gene expression across C57BL/6 and C57BL/10 substrains
… a pivotal role in multiple genetic diseases, population genetics applications, and forensic
casework. STRs exhibit rapid mutation rates of ∼10 −5 mutations per locus per generation, …
casework. STRs exhibit rapid mutation rates of ∼10 −5 mutations per locus per generation, …
A polymorphic X-linked tetranucleotide repeat locus displaying a high rate of new mutation: implications for mechanisms of mutation at short tandem repeat loci
MM Mahtani, HF Willard - Human molecular genetics, 1993 - academic.oup.com
… More recently, allele length mutations which increase the number of tandemly … of mutation
due to unstable trinucleotide repeats in meioses not associated with pathogenesis of disease …
due to unstable trinucleotide repeats in meioses not associated with pathogenesis of disease …
Forensic autosomal short tandem repeats and their potential association with phenotype
… Forensic DNA profiling utilizes autosomal short tandem … directly causing or predicting
disease. Such a demonstration … causative or predictive of disease. Regardless, the likelihood of …
disease. Such a demonstration … causative or predictive of disease. Regardless, the likelihood of …
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
… repeats and the mutation rate was observed. Our data demonstrate that mutation rates of …
orders of magnitude and that different alleles at one locus exhibit different mutation rates. …
orders of magnitude and that different alleles at one locus exhibit different mutation rates. …
A framework to interpret short tandem repeat variations in humans
… that are depleted of mutations has proven a useful strategy for interpreting the significance
of de novo variation in developmental disorders 1 , prioritizing rare disease variants 2 , and …
of de novo variation in developmental disorders 1 , prioritizing rare disease variants 2 , and …
A novel quantitative trait locus implicates Msh3 in the propensity for genome-wide short tandem repeat expansions in mice
MO Maksimov, C Wu, DG Ashbrook, F Villani… - Genome …, 2023 - genome.cshlp.org
… focused on somatic variation at a small number of disease-associated loci, we report a novel
… in disease, common mutations affecting Msh3 may contribute to biases in mutation patterns …
… in disease, common mutations affecting Msh3 may contribute to biases in mutation patterns …
Dynamic mutations: a decade of unstable expanded repeats in human genetic disease
RI Richards - Human molecular genetics, 2001 - academic.oup.com
… the pathways that lead from mutation to disease. This review will address … mutation process
and elaborate on the pathogenic pathways that lead from expanded repeats to the diseases …
and elaborate on the pathogenic pathways that lead from expanded repeats to the diseases …
Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family
N Brouwers, K Nuytemans, J van der Zee… - Archives of …, 2007 - jamanetwork.com
… disease, 8 ,9 and in PGRN null mutation carriers, parkinsonism has already been reported.
On the other hand, dementia is common in patients with Parkinson disease (PD… Short tandem …
On the other hand, dementia is common in patients with Parkinson disease (PD… Short tandem …