학술논문
Contribution of retrotransposition to developmental disorders
Document Type
article
Author
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)
Subject
Language
English
ISSN
2041-1723
Abstract
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.