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Article

Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population.

BMC medical genomics - 7 Jan 2021

Mitsuhashi Satomi, Frith Martin C, Matsumoto Naomichi

Abstract excerpt

BACKGROUND: Tandem repeats are highly mutable and contribute to the development of human disease by a variety of mechanisms. It is difficult to predict which tandem repeats may cause a disease. One hypothesis is that changeable tandem repeats are the source of genetic diseases, because disease-causing repeats are polymorphic in healthy individuals. However, it is not clear whether disease-causing repeats are more...

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Source

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Identifiers

PMID: 33413375
DOI: 10.1186/s12920-020-00853-3
PMCID: PMC7791882

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population.PMID 33413375Read ↗

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