Contribution of retrotransposition to developmental disorders

Bibliographic Details
Title: Contribution of retrotransposition to developmental disorders
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
Source: Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Publisher Information: Nature Portfolio, 2019.
Publication Year: 2019
Collection: LCC:Science
Subject Terms: Science
More Details: 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.
Document Type: article
File Description: electronic resource
Language: English
ISSN: 2041-1723
Relation: https://doaj.org/toc/2041-1723
DOI: 10.1038/s41467-019-12520-y
Access URL: https://doaj.org/article/aa83ff40241c4c9a9ff87879eb6387cd
Accession Number: edsdoj.83ff40241c4c9a9ff87879eb6387cd
Database: Directory of Open Access Journals
More Details
ISSN:20411723
DOI:10.1038/s41467-019-12520-y
Published in:Nature Communications
Language:English