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Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms

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Challenges facing repeat expansion identification, characterisation, and the pathway to discovery.

Justin L Read^1,2, Kayli C Davies^1,2, Genevieve C Thompson^1,2

¹Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, Victoria, Australia.

Emerging Topics in Life Sciences

|October 27, 2023

Summary

Tandem repeat DNA expansions cause over 50 diseases. New sequencing and bioinformatics tools offer high-throughput testing for these genetic disorders, improving diagnosis and patient care.

Keywords:

bioinformatics cerebellar ataxia diagnostics discovery next-generation sequencing

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Area of Science:

Genomics
Molecular Biology
Genetic Medicine

Background:

Tandem repeat DNA sequences are a significant part of the human genome.
Once thought to be non-functional, they are now recognized as key contributors to genetic diversity.
However, abnormal expansion of these repeats can lead to over 50 identified diseases.

Conclusions:

Technological progress is overcoming challenges in diagnosing repeat expansion disorders.
Genomic medicine holds promise for improved patient outcomes.
High-throughput sequencing and bioinformatics are transforming the study and diagnosis of these genetic conditions.