title: euL1db: the European database of L1HS retrotransposon insertions in humans.
abstract: Retrotransposons account for almost half of our genome. They are mobile genetics elements-also known as jumping genes--but only the L1HS subfamily of Long Interspersed Nuclear Elements (LINEs) has retained the ability to jump autonomously in modern humans. Their mobilization in germline--but also some somatic tissues--contributes to human genetic diversity and to diseases, such as cancer. Here, we present euL1db, the European database of L1HS retrotransposon insertions in humans (available at http://euL1db.unice.fr). euL1db provides a curated and comprehensive summary of L1HS insertion polymorphisms identified in healthy or pathological human samples and published in peer-reviewed journals. A key feature of euL1db is its sample--wise organization. Hence L1HS insertion polymorphisms are connected to samples, individuals, families and clinical conditions. The current version of euL1db centralizes results obtained in 32 studies. It contains >900 samples, >140,000 sample-wise insertions and almost 9000 distinct merged insertions. euL1db will help understanding the link between L1 retrotransposon insertion polymorphisms and phenotype or disease.
authors.affiliation: INSERM, U1081, Institute for Research on Cancer and Aging of Nice (IRCAN), F-06100 Nice, France CNRS, UMR 7284, Institute for Research on Cancer and Aging of Nice (IRCAN), F-06100 Nice, France Faculty of Medicine, Institute for Research on Cancer and Aging of Nice (IRCAN), University of Nice-Sophia-Antipolis, F-06100 Nice, France.
authors.forename: Ashfaq A
authors.initials: AA
authors.lastname: Mir
authors.affiliation: INSERM, U1081, Institute for Research on Cancer and Aging of Nice (IRCAN), F-06100 Nice, France CNRS, UMR 7284, Institute for Research on Cancer and Aging of Nice (IRCAN), F-06100 Nice, France Faculty of Medicine, Institute for Research on Cancer and Aging of Nice (IRCAN), University of Nice-Sophia-Antipolis, F-06100 Nice, France.
authors.forename: Claude
authors.initials: C
authors.lastname: Philippe
authors.affiliation: INSERM, U1081, Institute for Research on Cancer and Aging of Nice (IRCAN), F-06100 Nice, France CNRS, UMR 7284, Institute for Research on Cancer and Aging of Nice (IRCAN), F-06100 Nice, France Faculty of Medicine, Institute for Research on Cancer and Aging of Nice (IRCAN), University of Nice-Sophia-Antipolis, F-06100 Nice, France Gael.Cristofari@unice.fr.
authors.forename: Gaël
authors.identifier: http://orcid.org/0000-0001-5620-3091
authors.initials: G
authors.lastname: Cristofari
mesh_terms: D030561:Databases, Nucleic Acid; D004194:Disease / Q000235:genetics; D006801:Humans; D020084:Long Interspersed Nucleotide Elements; D010641:Phenotype; D011110:Polymorphism, Genetic