Sequence variants affecting the genome-wide rate of germline microsatellite mutations.

doi:10.1038/s41467-023-39547-6

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Article

Sequence variants affecting the genome-wide rate of germline microsatellite mutations.

Nature communications - 29 Jun 2023

Kristmundsdottir Snaedis, Jonsson Hakon, Hardarson Marteinn T, Palsson Gunnar, Beyter Doruk, Eggertsson Hannes P, Gylfason Arnaldur, Sveinbjornsson Gardar, Holley Guillaume, Stefansson Olafur A, Halldorsson Gisli H, Olafsson Sigurgeir, Arnadottir Gudny A, Olason Pall I, Eiriksson Ogmundur, Masson Gisli, Thorsteinsdottir Unnur, Rafnar Thorunn, Sulem Patrick, Helgason Agnar, Gudbjartsson Daniel F, Halldorsson Bjarni V, Stefansson Kari

Abstract excerpt

Microsatellites are polymorphic tracts of short tandem repeats with one to six base-pair (bp) motifs and are some of the most polymorphic variants in the genome. Using 6084 Icelandic parent-offspring trios we estimate 63.7 (95% CI: 61.9-65.4) microsatellite de novo mutations (mDNMs) per offspring per generation, excluding one bp repeats motifs (homopolymers) the estimate is 48.2 mDNMs (95% CI: 46.7-49.6)....

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PMID: 37386006
DOI: 10.1038/s41467-023-39547-6
PMCID: PMC10310707

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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