Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia
2019
Active
retrotransposonsin the human genome (L1, Alu and SVA elements) can create genomic mobile element insertions (MEIs) in both germline and
somatictissue. Specific
somaticMEIs have been detected at high levels in human cancers, and at lower to medium levels in
human brains. Dysregulation of
somaticretrotransposition in the
human brainhas been hypothesized to contribute to neuropsychiatric diseases. However, individual
somaticMEIs are present in small proportions of cells at a given anatomical location, and thus standard
whole-genome sequencing(WGS) presents a difficult signal-to-noise problem, while single-cell approaches suffer from limited scalability and experimental artifacts introduced by enzymatic whole-genome amplification6. Previous studies produced widely differing estimates for the
somaticretrotransposition rates in
human brain. Here, we present a highly precise machine learning method (RetroSom) to directly identify
somaticL1 and Alu insertions in
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