<p>The aim of this study is to discover LINE-1 (L1) insertion sites present in humans that are absent from the reference
 genome sequence. We use the distinguishing nucleotide characteristics of human-specific L1 elements to resequence
 the L1 3' flanking regions thus locating the L1 insertion sites whether or not they are present in the reference
 genome assembly. In doing so, we have uncovered a higher than expected number of non-reference L1 insertions, an
 average of 152 insertions per individual. In addition, we find that any two individuals differ at an average
 of 285 sites with respect to presence or absence of L1 insertions in those sites, and use this to estimate the
 rate of retrotransposition in humans at 1 event per 140 live births (95% c.i. 1/95 to 1/270). We show that
 individual 'L1 profiles' recapitulate genetic ancestry as expected, and find that dimorphic insertions
 are more frequent in introns relative to fixed insertions.</p>

High-Throughput Retrotransposon Discovery in Humans

1 selected publication including "High-throughput sequencing reveals extensive variation in human-specif..." (303 citations)

High-Throughput Retrotransposon Discovery in Humans

High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes.