A Comprehensive Assay for Resolving Repeat Expansions to the Base Pair

Article Multidisciplinary Sciences

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

Igor Stevanovski et al.

Summary: This article describes a method for genotyping neurological STR expansions using targeted long-read sequencing with Oxford Nanopore's ReadUntil function. The method allows for accurate DNA analysis and haplotype-resolved assembly, and successfully diagnoses patients with neurogenetic diseases. Long-read sequencing solves large and complex STR expansions and reveals a diversity of STR alleles.

SCIENCE ADVANCES (2022)

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Review Genetics & Heredity

30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

Christel Depienne et al.

Summary: Tandem repeats, a common variation in human genomes, can lead to disorders affecting the central nervous system. While some disorders have been identified, there are still many more to be discovered, and long-read technologies offer a new opportunity for studying these diseases.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

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Article Genetics & Heredity

Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield

Bart P. G. H. van der Sanden et al.

Summary: The study examined the diagnostic utility of STR analysis in exome sequencing, identifying patients with abnormal STR length and providing molecular diagnoses for some cases. Systematic STR evaluation was shown to increase diagnostic yield of exome sequencing, suggesting routine inclusion of STR evaluation in genetic testing laboratories for improved interpretation.

GENETICS IN MEDICINE (2021)

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Article Biochemistry & Molecular Biology

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

Erik-Jan Kamsteeg et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2012)

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Article Biochemistry & Molecular Biology

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

Claudia Braida et al.

HUMAN MOLECULAR GENETICS (2010)

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A Comprehensive Assay for Resolving Repeat Expansions to the Base Pair

Related references

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

30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

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