4.8 Article

euL1db: the European database of L1HS retrotransposon insertions in humans

期刊

NUCLEIC ACIDS RESEARCH
卷 43, 期 D1, 页码 D43-D47

出版社

OXFORD UNIV PRESS
DOI: 10.1093/nar/gku1043

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资金

  1. Institut National de la Sante Et de la Recherche Medicale
  2. Institut National du Cancer [2009-340]
  3. European Research Council [243312]
  4. Agence Nationale pour la Recherche [ANR-11-LABX-0028-01]
  5. European Research Council (ERC) [243312] Funding Source: European Research Council (ERC)

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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.

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