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Article

Large scale in silico characterization of repeat expansion variation in human genomes.

Scientific data - 8 Sept 2020

Fazal Sarah, Danzi Matt C, Cintra Vivian P, Bis-Brewer Dana M, Dolzhenko Egor, Eberle Michael A, Zuchner Stephan

Abstract excerpt

Significant progress has been made in elucidating single nucleotide polymorphism diversity in the human population. However, the majority of the variation space in the genome is structural and remains partially elusive. One form of structural variation is tandem repeats (TRs). Expansion of TRs are responsible for over 40 diseases, but we hypothesize these represent only a fraction of the pathogenic repeat...

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Identifiers

PMID: 32901039
DOI: 10.1038/s41597-020-00633-9
PMCID: PMC7479135

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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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