Contribution of retrotransposition to developmental disorders
Contribution of retrotransposition to developmental disorders
About this item
Full title
Author / Creator
Gardner, Eugene J. , Prigmore, Elena , Gallone, Giuseppe , Danecek, Petr , Samocha, Kaitlin E. , Handsaker, Juliet , Gerety, Sebastian S. , Ironfield, Holly , Short, Patrick J. , Sifrim, Alejandro , Singh, Tarjinder , Chandler, Kate E. , Clement, Emma , Lachlan, Katherine L. , Prescott, Katrina , Rosser, Elisabeth , FitzPatrick, David R. , Firth, Helen V. and Hurles, Matthew E.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Mobile genetic Elements (MEs) are segments of DNA which can copy themselves and other transcribed sequences through the process of retrotransposition (RT). In humans several disorders have been attributed to RT, but the role of RT in severe developmental disorders (DD) has not yet been explored. Here we identify RT-derived events in 9738 exome sequ...
Alternative Titles
Full title
Contribution of retrotransposition to developmental disorders
Authors, Artists and Contributors
Author / Creator
Prigmore, Elena
Gallone, Giuseppe
Danecek, Petr
Samocha, Kaitlin E.
Handsaker, Juliet
Gerety, Sebastian S.
Ironfield, Holly
Short, Patrick J.
Sifrim, Alejandro
Singh, Tarjinder
Chandler, Kate E.
Clement, Emma
Lachlan, Katherine L.
Prescott, Katrina
Rosser, Elisabeth
FitzPatrick, David R.
Firth, Helen V.
Hurles, Matthew E.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_aa83ff40241c4c9a9ff87879eb6387cd
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_aa83ff40241c4c9a9ff87879eb6387cd
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-019-12520-y
