a database of retrotransposon insertion
polymorphisms in humans
Liang Lab

database of retrotransposon insertion polymorphisms in humans


RETROTRANSPOSONS constitute over 40% of the human genome and consist of several millions of family members. They play important roles in shaping the structure and evolution of the genome and in participating in gene functioning and regulation. Since L1, Alu, and SVA retrotransposons are currently active in the human genome, their recent and ongoing retrotranspositional insertions generate a unique and important class of genetic polymorphisms (for the presence or absence of an insertion) among and within human populations. As such, they are useful genetic markers in population genetics studies due to their identical-by-descent and essentially homoplasy-free nature. Additionally, some polymorphic insertions are known to be responsible for a variety of human genetic diseases. dbRIP is a database of human Retrotransposon Insertion Polymorphisms (RIPs), in which RIPs are highly integrated into the human genome annotation data provided by UCSC Genome Browser. dbRIP contains all currently known Alu, L1, and SVA polymorphic insertion loci in the human genome.