Article

Challenges in Detecting Somatic Recombination of Repeat Elements: Insights from Short and Long Read Datasets

2024-08-26

Abstract excerpt

Non-allelic copies of the two major families of repeat elements in the human genome, Alu and L1, recombine somatically at high frequency. Tissue-specific recombination profiles are dynamic in cell differentiation and are altered in neurodegeneration, suggesting that somatic recombination of repeat elements can contribute to functional heterogeneity of cells in health and disease. The study of these genomic variant...

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Literature Corpus work: 34fb8b9a-2f4c-551a-8e9f-f0a3361db372
DOI: 10.1101/2024.08.25.609631

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