An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics
SR Chintalaphani, SS Pineda, IW Deveson… - Acta Neuropathologica …, 2021 - Springer
… Short tandem repeat (STR) expansion disorders are an important cause of human neurological
disease… by other mutations such as missense and frameshift mutations. Interestingly, …
disease… by other mutations such as missense and frameshift mutations. Interestingly, …
Mutation and selection processes regulating short tandem repeats give rise to genetic and phenotypic diversity across species
M Verbiest, M Maksimov, Y Jin… - Journal of …, 2023 - academic.oup.com
… Short tandem repeats are one of the richest sources of genotypic variation, but were long …
of neurodegenerative repeat expansion diseases such as Huntington's disease. However, we …
of neurodegenerative repeat expansion diseases such as Huntington's disease. However, we …
Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences
T Gall-Duncan, N Sato, RKC Yuen… - Genome …, 2022 - genome.cshlp.org
… of new repeat disease motifs, the focus of … disease mutation discovery and our understanding
of pathogenic mechanisms. We begin with a brief overview of the history of repeat disease …
of pathogenic mechanisms. We begin with a brief overview of the history of repeat disease …
Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions
IS Rajan-Babu, JJ Peng, R Chiu… - Genome medicine, 2021 - Springer
… , FXN, or DMPK disease STR locus, or the spinocerebellar ataxia disease STR panel, our …
We performed clinical PCR tests on seven (out of 10) full-mutation samples identified by our …
We performed clinical PCR tests on seven (out of 10) full-mutation samples identified by our …
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
… short tandem repeats (STRs) have been implicated as the causal variant in over 50 diseases
… However, running these tools out of the box only allows around half of the known disease-…
… However, running these tools out of the box only allows around half of the known disease-…
[HTML][HTML] Accuracy of short tandem repeats genotyping tools in whole exome sequencing data
A Halman, A Oshlack - F1000Research, 2020 - ncbi.nlm.nih.gov
… Background: Short tandem repeats are an important source … , such as Huntington's disease
and spinocerebellar ataxias. … We compared four different short tandem repeats genotyping …
and spinocerebellar ataxias. … We compared four different short tandem repeats genotyping …
Patterns of de novo tandem repeat mutations and their role in autism
… 3d), we find that the mutation excess in probands increases for mutations resulting in rarer
… resource for further characterizing TR mutations and their role in ASD and other diseases. …
… resource for further characterizing TR mutations and their role in ASD and other diseases. …
Properties of structural variants and short tandem repeats associated with gene expression and complex traits
… Structural variants (SVs) and short tandem repeats (STRs) … of structural variant classes and
short tandem repeats that are … Traits linked to eSVs and eSTRs included diseases such as …
short tandem repeats that are … Traits linked to eSVs and eSTRs included diseases such as …
Short tandem repeat-enriched architectural RNAs in nuclear bodies: functions and associated diseases
K Ninomiya, T Hirose - Non-coding RNA, 2020 - mdpi.com
… UGGAA repeat RNA suppresses the toxic effects of the ALS-causing TDP43 mutation. This
… the TDP43 mutation could be responsible for the neurodegenerative disease phenotypes [39]…
… the TDP43 mutation could be responsible for the neurodegenerative disease phenotypes [39]…
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 …
相关搜索
- short tandem repeats
- short tandem associated diseases
- diagnostic uplift short tandem repeat analysis
- sequence diversity short tandem repeat loci
- gene expression short tandem repeat variation
- short read sequencing data tandem repeats
- short tandem architectural rnas
- short tandem nuclear bodies
- disease alleles tandem repeat