title: Population and clinical genetics of human transposable elements in the (post) genomic era.
abstract: Recent technological developments-in genomics, bioinformatics and high-throughput experimental techniques-are providing opportunities to study ongoing human transposable element (TE) activity at an unprecedented level of detail. It is now possible to characterize genome-wide collections of TE insertion sites for multiple human individuals, within and between populations, and for a variety of tissue types. Comparison of TE insertion site profiles between individuals captures the germline activity of TEs and reveals insertion site variants that segregate as polymorphisms among human populations, whereas comparison among tissue types ascertains somatic TE activity that generates cellular heterogeneity. In this review, we provide an overview of these new technologies and explore their implications for population and clinical genetic studies of human TEs. We cover both recent published results on human TE insertion activity as well as the prospects for future TE studies related to human evolution and health.
authors.affiliation: School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA, USA; PanAmerican Bioinformatics Institute, Cali, Colombia; Applied Bioinformatics Laboratory, Atlanta, GA, USA.
authors.forename: Lavanya
authors.initials: L
authors.lastname: Rishishwar
authors.affiliation: School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA, USA; PanAmerican Bioinformatics Institute, Cali, Colombia.
authors.forename: Lu
authors.initials: L
authors.lastname: Wang
authors.affiliation: School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA, USA; Ovarian Cancer Institute, Atlanta, GA, USA.
authors.forename: Evan A
authors.initials: EA
authors.lastname: Clayton
authors.affiliation: PanAmerican Bioinformatics Institute, Cali, Colombia; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Leonardo
authors.initials: L
authors.lastname: Mariño-Ramírez
authors.affiliation: School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA, USA; Ovarian Cancer Institute, Atlanta, GA, USA.
authors.forename: John F
authors.initials: JF
authors.lastname: McDonald
authors.affiliation: School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA, USA; PanAmerican Bioinformatics Institute, Cali, Colombia; Applied Bioinformatics Laboratory, Atlanta, GA, USA.
authors.forename: I King
authors.initials: IK
authors.lastname: Jordan
keywords: bioinformatics; disease; genetics; genomics; health; human; natural selection; polymorphisms; transposable elements; transposition