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

doi:10.1038/s41586-020-2579-z

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Article

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

Nature - 1 Oct 2020

Trost Brett, Engchuan Worrawat, Nguyen Charlotte M, Thiruvahindrapuram Bhooma, Dolzhenko Egor, Backstrom Ian, Mirceta Mila, Mojarad Bahareh A, Yin Yue, Dov Alona, Chandrakumar Induja, Prasolava Tanya, Shum Natalie, Hamdan Omar, Pellecchia Giovanna, Howe Jennifer L, Whitney Joseph, Klee Eric W, Baheti Saurabh, Amaral David G, Anagnostou Evdokia, Elsabbagh Mayada, Fernandez Bridget A, Hoang Ny, Lewis M E Suzanne, Liu Xudong, Sjaarda Calvin, Smith Isabel M, Szatmari Peter, Zwaigenbaum Lonnie, Glazer David, Hartley Dean, Stewart A Keith, Eberle Michael A, Sato Nozomu, Pearson Christopher E, Scherer Stephen W, Yuen Ryan K C

Abstract excerpt

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...

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PMID: 32717741
DOI: 10.1038/s41586-020-2579-z
PMCID: PMC9348607

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

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