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Repeat Expansion

Definition
AI-generated

A repeat expansion is a variant in which the number of copies of a short tandem repeat motif increases beyond the usual range.

Topics
Core genetics
Related
Long-Read Sequencing Microsatellite Satellite DNA

Why it matters in GWAS

Repeat expansions are an important class of pathogenic variation that may be missed by arrays, routine imputation, and standard short-variant calling pipelines.

Example usage

"Targeted assays were required to test whether a repeat expansion explained the locus signal."

Long-Read Sequencing Microsatellite Satellite DNA Short Tandem Repeat (STR) Structural Variant Tandem Repeat Variable Number Tandem Repeat (VNTR) Variant Calling
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Depienne C, Mandel JL. (2021). 30 years of repeat expansion disorders: what have we learned and what are the remaining challenges? Am J Hum Genet.
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