Abstract
One third of euploid embryo transfers fail, implicating sub-chromosomal genetic variation. Retrotransposons play important roles during early development, when they are transiently de repressed during epigenetic re programming. Long interspersed element-1 (L-1), the only autonomous retrotransposon in humans, comprises 17% of the human genome. L-1’s repetitive nature limits the utility of conventional assays-positional information is necessary to establish the novelty of L-1 insertions. Recently we developed Single Cell Transposon Insertion Profiling by Sequencing (scTIPseq) to characterize L-1 insertions in individual cells (McKerrow et al, Phil Trans R Soc Lond Bio, 2020).
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