Nature Communications (Oct 2019)
Contribution of retrotransposition to developmental disorders
- 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
Affiliations
- Eugene J. Gardner
- Wellcome Sanger Institute
- Elena Prigmore
- Wellcome Sanger Institute
- Giuseppe Gallone
- Wellcome Sanger Institute
- Petr Danecek
- Wellcome Sanger Institute
- Kaitlin E. Samocha
- Wellcome Sanger Institute
- Juliet Handsaker
- Wellcome Sanger Institute
- Sebastian S. Gerety
- Wellcome Sanger Institute
- Holly Ironfield
- Wellcome Sanger Institute
- Patrick J. Short
- Wellcome Sanger Institute
- Alejandro Sifrim
- Department of Human Genetics, KU Leuven
- Tarjinder Singh
- Wellcome Sanger Institute
- Kate E. Chandler
- Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, Greater
- Emma Clement
- Department of Clinical Genetics, North East Thames Regional Genetics Service
- Katherine L. Lachlan
- Wessex Clinical Genetics Service, Southampton University Hospitals NHS Foundation Trust, Princess Anne Hospital
- Katrina Prescott
- Clinical Genetics Department, Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Chapel Allerton Hospital
- Elisabeth Rosser
- Department of Clinical Genetics, North East Thames Regional Genetics Service
- David R. FitzPatrick
- MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, WGH
- Helen V. Firth
- Wellcome Sanger Institute
- Matthew E. Hurles
- Wellcome Sanger Institute
- DOI
- https://doi.org/10.1038/s41467-019-12520-y
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 10
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.
