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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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/aa83ff40241c4c9a9ff87879eb6387cd
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spelling	oai:doaj.org-article:aa83ff40241c4c9a9ff87879eb6387cd2021-12-02T17:02:19ZContribution of retrotransposition to developmental disorders10.1038/s41467-019-12520-y2041-1723https://doaj.org/article/aa83ff40241c4c9a9ff87879eb6387cd2019-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-12520-yhttps://doaj.org/toc/2041-1723Retrotransposition 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.Eugene J. GardnerElena PrigmoreGiuseppe GallonePetr DanecekKaitlin E. SamochaJuliet HandsakerSebastian S. GeretyHolly IronfieldPatrick J. ShortAlejandro SifrimTarjinder SinghKate E. ChandlerEmma ClementKatherine L. LachlanKatrina PrescottElisabeth RosserDavid R. FitzPatrickHelen V. FirthMatthew E. HurlesNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 Contribution of retrotransposition to developmental disorders
description	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.
format	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
author_facet	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
author_sort	Eugene J. Gardner
title	Contribution of retrotransposition to developmental disorders
title_short	Contribution of retrotransposition to developmental disorders
title_full	Contribution of retrotransposition to developmental disorders
title_fullStr	Contribution of retrotransposition to developmental disorders
title_full_unstemmed	Contribution of retrotransposition to developmental disorders
title_sort	contribution of retrotransposition to developmental disorders
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/aa83ff40241c4c9a9ff87879eb6387cd
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Contribution of retrotransposition to developmental disorders

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