ArticleNeurology. Genetics2026
Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency Disorder.
Article in Neurology. Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- It Takes 2 (Repeats) to Lose TANGO2.Neurology. Genetics · 2026Article
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Authors and funding
9 authors.
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Abstract
Background: TANGO2 deficiency disorder (TDD) is a rare autosomal recessive condition characterized by neurodevelopmental delay, epilepsy, and metabolic crises, mainly caused by recurrent deletions in Methods: Long-read HiFi GS was performed on blood-derived genomic DNA from affected individuals in both families using the Revio system (Pacific Biosciences). Results: Homozygous deletions spanning exons 3-9 in family 1 and exons 4-6 in family 2 were identified. These recurrent deletions resulted from genomic recombination between an Discussion: This study highlights the diagnostic value of long-read HiFi GS for detecting structural variants (SVs) overlooked by standard-of-care NGS and enabling base-pair level breakpoint characterization. It provides the first evidence of retrotransposon-mediated recombination causing recurrent
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