Medically relevant tandem repeats in nanopore sequencing of control cohorts

W De Coster, I Hoijer, I Bruggeman, S D'Hert, M Melin… - medRxiv, 2024 - medrxiv.org
Research and diagnostics for medically relevant tandem repeats and repeat expansions are
hampered by the lack of population-scale databases. We attempt to fill this gap using our …

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
Short tandem repeats (STRs) are widely present in the human genome. Studies have
confirmed that STRs are associated with more than 30 diseases, and they have also been …

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

I Stevanovski, SR Chintalaphani, H Gamaarachchi… - Science …, 2022 - science.org
More than 50 neurological and neuromuscular diseases are caused by short tandem repeat
(STR) expansions, with 37 different genes implicated to date. We describe the use of …

CarrierSeq: a sequence analysis workflow for low-input nanopore sequencing

A Mojarro, J Hachey, G Ruvkun, MT Zuber, CE Carr - BMC bioinformatics, 2018 - Springer
Background Long-read nanopore sequencing technology is of particular significance for
taxonomic identification at or below the species level. For many environmental samples, the …

[HTML][HTML] Genome-wide profiling of genetic variation at tandem repeat from long reads

HZ Jam, JM Zook, S Javadzadeh, J Park, A Sehgal… - bioRxiv, 2024 - ncbi.nlm.nih.gov
Tandem repeats are frequent across the human genome, and variation in repeat length has
been linked to a variety of traits. Recent improvements in long read sequencing …

LongTR: genome-wide profiling of genetic variation at tandem repeats from long reads

H Ziaei Jam, JM Zook, S Javadzadeh, J Park, A Sehgal… - Genome Biology, 2024 - Springer
Tandem repeats are frequent across the human genome, and variation in repeat length has
been linked to a variety of traits. Recent improvements in long read sequencing …

Enhanced Detection and Genotyping of Disease-Associated Tandem Repeats Using HMMSTR and Targeted Long-Read Sequencing

K Van Deynze, C Mumm, CJ Maltby, JA Switzenberg… - medRxiv, 2024 - medrxiv.org
Tandem repeat sequences comprise approximately 8% of the human genome and are
linked to more than 50 neurodegenerative disorders. Accurate characterization of disease …

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
Forensic short-tandem repeats (STR) genetic markers are multi-allelic, and widely utilized
for in individual identification, kinship testing, and cell-line authentication. Nanopore …

Maximizing the potential of genomic and transcriptomic studies by nanopore sequencing

D Meyer, W Goettsch, J Spangenberg, P Bohn… - bioRxiv, 2023 - biorxiv.org
Nucleic acid sequencing is the process of identifying the sequence of DNA or RNA, with
DNA used for genomes and RNA for transcriptomes. Deciphering this information has the …

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
Background Tandem repeats are highly mutable and contribute to the development of
human disease by a variety of mechanisms. It is difficult to predict which tandem repeats …