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.

Bibliographic Details
Main Authors: 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
Language:English
Published: Nature Publishing Group 2019-10-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-019-12520-y

Internet

https://doi.org/10.1038/s41467-019-12520-y

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