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Article

Evolution of a Human-Specific Tandem Repeat Associated with ALS.

American journal of human genetics - 3 Sept 2020

Course Meredith M, Gudsnuk Kathryn, Smukowski Samuel N, Winston Kosuke, Desai Nitin, Ross Jay P, Sulovari Arvis, Bourassa Cynthia V, Spiegelman Dan, Couthouis Julien, Yu Chang-En, Tsuang Debby W, Jayadev Suman, Kay Mark A, Gitler Aaron D, Dupre Nicolas, Eichler Evan E, Dion Patrick A, Rouleau Guy A, Valdmanis Paul N

Abstract excerpt

Tandem repeats are proposed to contribute to human-specific traits, and more than 40 tandem repeat expansions are known to cause neurological disease. Here, we characterize a human-specific 69 bp variable number tandem repeat (VNTR) in the last intron of WDR7, which exhibits striking variability in both copy number and nucleotide composition, as revealed by long-read sequencing. In addition, greater repeat copy...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32750315
DOI: 10.1016/j.ajhg.2020.07.004
PMCID: PMC7477013

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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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