Detection and annotation of transposable element insertions and deletions on the human genome using nanopore sequencing

Repetitive sequences represent about 45% of the human genome. Some are transposable elements (TEs) with the ability to change their position in the genome, creating genetic variability both as insertions or deletions, with potential pathogenic consequences. We used long-read nanopore sequencing to identify TE variants in the genomes of 24 patients with antithrombin deficiency. We identified 7 344 TE insertions and 3 056 TE deletions, 2 926 were not previously described in publicly available databases. The insertions affected 3 955 genes, with 6 insertions located in exons, 3 929 in introns, and 147 in promoters. Potential functional impact was evaluated with gene annotation and enrichment analysis, which suggested a strong relationship with neuron-related functions and autism. We conclude that this study encourages the generation of a complete map of TEs in the human genome, which will be useful for identifying new TEs involved in genetic disorders. [Display omitted] •7344 TE insertions and 3056 deletions were detected in 24 patients with AT deficiency•2926 TE insertions were not present in previous datasets of TE insertions•6 TE insertions were found in exons, 3 929 in introns, and 147 in promoters•Neuron related functions and autism linked to the genes affected by TE insertions