Contribution of retrotransposition to developmental disorders

Contribution of retrotransposition to developmental disorders

Retrotransposition events have been linked to some human disorders. Here, Gardner et al. systematically search for mobile genetic elements (ME) in trio whole exome-sequencing datasets and ascertain 9 de novo MEs and further estimate genome-wide germline ME burden and constraint.

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Auteurs principaux: Eugene J. Gardner, Elena Prigmore, Giuseppe Gallone, Petr Danecek, Kaitlin E. Samocha, Juliet Handsaker, Sebastian S. Gerety, Holly Ironfield, Patrick J. Short, Alejandro Sifrim, Tarjinder Singh, Kate E. Chandler, Emma Clement, Katherine L. Lachlan, Katrina Prescott, Elisabeth Rosser, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles
Format: article
Langue:EN
Publié: Nature Portfolio 2019
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Science
Q
Accès en ligne:https://doaj.org/article/aa83ff40241c4c9a9ff87879eb6387cd
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Internet

https://doaj.org/article/aa83ff40241c4c9a9ff87879eb6387cd

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