Retrotransposon capture sequencing identifies somatic genome variation in the human brain

Retrotransposons are ancient retrovirus-like elements that occupy nearly half the human genome. Some retrotransposons retain the capacity to copy and insert into different genomic locations, not only within the germ line, but also during development, such that somatic mosaicism is much more widespread than previously thought. Since the discovery that retrotransposition occurs during organogenesis in humans, a fundamental challenge in genomics has been to locate and quantify developmentally-acquired retrotransposons. These datasets describe the development and successful application of retrotransposon capture-sequencing (RC-seq) to locate genomic insertions in samples from human brain regions and pooled blood.