STRetch: detecting and discovering pathogenic short tandem repeat expansions [PDF]
Genome Biology, 2018 Short tandem repeat (STR) expansions have been identified as the causal DNA mutation in dozens of Mendelian diseases. Most existing tools for detecting STR variation with short reads do so within the read length and so are unable to detect the majority ...
Harriet Dashnow +11 more
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Short tandem repeat typing technologies used in human identity testing
BioTechniques, 2007 Short tandem repeat (STR) typing methods are widely used today for human identity testing applications including forensic DNA analysis. Following multiplex PCR amplification, DNA samples containing the length-variant STR alleles are typically separated ...
John M. Butler
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Aspectos biodemográficos de grupos étnicos Macro-Pano de Bolivia y caracterización genética de las poblaciones Aymará, Quechua, Chimane y Mosetén [PDF]
, 2011 [spa] La tesis trata de definir algunos aspectos de la situación demográfica y describir la genética poblacional a partir del estudio de haplogrupos del ADN mitocondrial (ADNmt), secuenciación de la región de control d-loop del ADNmt (HVRI), de ...
Bert i Fibla, Francesc
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Native functions of short tandem repeats
eLife, 2023 Over a third of the human genome is comprised of repetitive sequences, including more than a million short tandem repeats (STRs). While studies of the pathologic consequences of repeat expansions that cause syndromic human diseases are extensive, the potential native functions of STRs are often ignored.
Shannon E Wright, Peter K Todd
openaire +3 more sources
Counting short tandem repeats [PDF]
Nature Methods, 2020 A method using CRISPR–Cas technology, nanopore sequencing and bioinformatics enables quantification of short tandem repeats with high accuracy.
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Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective. [PDF]
Genes (Basel)Fragile X, Huntington disease, and myotonic dystrophy type 1 are prototypical examples of human disorders caused by short tandem repeat variation, repetitive nucleotide stretches that are highly mutable both in the germline and somatic tissue.
Doss RM +6 more
europepmc +2 more sources
Short Tandem Repeat 3D Structure Database (STR3SD): A Resource for Structural Biology Research of Short Tandem Repeats in Neurodegenerative Disorders. [PDF]
Int J Mol SciThe Short Tandem Repeat 3D Structure Database (STR3SD) is a web-based database that provides a comprehensive resource for structural biology research of short tandem repeats (STRs) in cancers and neurodegenerative diseases.
Jie K +11 more
europepmc +2 more sources
Mutation of human short tandem repeats [PDF]
Human Molecular Genetics, 1993 A total of 20,000 parent-offspring transfers of alleles were examined through the genotyping within 40 CEPH reference families of 28 short tandem repeat polymorphisms (STRPs) located on chromosome 19. Forty-seven initial mutation events were detected in the STRPs using DNA from transformed lymphoblastoid cell lines, but less than half (39%) could be ...
J L, Weber, C, Wong
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Optimization and Validation of Candida auris Short Tandem Repeat Analysis
Microbiology Spectrum, 2022 Candida auris is an easily transmissible yeast with resistance to different antifungal compounds. Outbreaks of C. auris are mostly observed in intensive care units.
Theun de Groot +4 more
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DeepRepeat: direct quantification of short tandem repeats on signal data from nanopore sequencing
Genome Biology, 2022 Despite recent improvements in basecalling accuracy, nanopore sequencing still has higher error rates on short-tandem repeats (STRs). Instead of using basecalled reads, we developed DeepRepeat which converts ionic current signals into red-green-blue ...
Li Fang +5 more
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