Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population

S Mitsuhashi, MC Frith, N Matsumoto - BMC medical genomics, 2021 - Springer
… tandem repeats across a variety of repeat unit lengths and sequences, from long read
sequencing … It is plausible that tandem repeats near those GWAS markers actually have functional …

Analysis of short tandem repeat expansions and their methylation state with nanopore sequencing

P Giesselmann, B Brändl, E Raimondeau… - Nature …, 2019 - nature.com
… Cas-based enrichment strategy for nanopore sequencing combined with an … repeat
identification, quantification and evaluation, integrates conventional sequence mapping of nanopore

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

I Stevanovski, SR Chintalaphani, H Gamaarachchi… - Science …, 2022 - science.org
repeat (STR) expansions, with 37 different genes implicated to date. We describe the use of
programmable targeted long-read sequencing with Oxford Nanopore’… long-read sequencing

Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing

S Miyatake, E Koshimizu, A Fujita, H Doi… - NPJ Genomic …, 2022 - nature.com
… of T-LRS provided precise information on any interrupting sequences near disease-causing
repeats, which can act as disease modifiers or markers. In Patient 1, expanded CAG …

Nanopore sequencing of complex genomic rearrangements in yeast reveals mechanisms of repeat-mediated double-strand break repair

RJ McGinty, RG Rubinstein, AJ Neil… - Genome …, 2017 - genome.cshlp.org
sequencing approach, as opposed to targeted sequence capture. Our results demonstrate
that Nanopore sequencing is … was replaced with a similarly sized marker gene. The HIS3MX6 …

[PDF][PDF] Potential applications of nanopore sequencing for forensic analysis

CL Hall, RR Zascavage, FJ Sedlazeck… - Forensic science …, 2020 - researchgate.net
… forensic STR markers demonstrates that sequence-level data not captured by repeat length
… through the pore, the complement strand is drawn in and the sequence process is repeated. …

NASTRA: Accurate analysis of short tandem repeat markers by nanopore sequencing with repeat-structure-aware algorithm

Z Ren, J Zhang, Y Zhang, T Yang, P Sun, J Xue, X Bo… - bioRxiv, 2023 - biorxiv.org
Nanopore sequencing is promising in STR typing for its convenience, but 17 lack of … 18
nanopore sequencing, which uses an STR-structure-aware algorithm to infer repeat numbers of …

NanoSTR: A method for detection of target short tandem repeats based on nanopore sequencing data

J Lang, Z Xu, Y Wang, J Sun, Z Yang - Frontiers in Molecular …, 2023 - frontiersin.org
… We found similar distributions of average sequencing depth of STR markers in the six control
sample datasets (Figure 4A). However, the coverage of some loci was very low in 2800M, …

Brain regional differences in hexanucleotide repeat length in X-linked dystonia-parkinsonism using nanopore sequencing

CJ Reyes, BH Laabs, S Schaake, T Lüth… - Neurology …, 2021 - AAN Enterprises
… The use of such markers ensured that the hybridization … sequencing to repeat instability,
helping us provide further evidence of brain region–specific instability of the (CCCTCT) n repeat

Forensic nanopore sequencing of microhaplotype markers using QitanTech's QNome

Z Wang, L Qin, J Liu, L Jiang, X Zou, X Chen… - Forensic Science …, 2022 - Elsevier
… The mainstream method is based on well-established short tandem repeat (STR) markers,
which are at the core of national and international databases used for finding links between …