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Genome-wide detection of tandem DNA repeats that...
Journal article

Genome-wide detection of tandem DNA repeats that are expanded in autism

Abstract

Tandem DNA repeats vary in the size and sequence of each unit (motif). When expanded, these tandem DNA repeats have been associated with more than 40 monogenic disorders1. Their involvement in disorders with complex genetics is largely unknown, as is the extent of their heterogeneity. Here we investigated the genome-wide characteristics of tandem repeats that had motifs with a length of 2–20 base pairs in 17,231 genomes of families containing …

Authors

Trost B; Engchuan W; Nguyen CM; Thiruvahindrapuram B; Dolzhenko E; Backstrom I; Mirceta M; Mojarad BA; Yin Y; Dov A

Journal

Nature, Vol. 586, No. 7827, pp. 80–86

Publisher

Springer Nature

Publication Date

October 1, 2020

DOI

10.1038/s41586-020-2579-z

ISSN

0028-0836