Cargando…
Contribution of retrotransposition to developmental disorders
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. Her...
Autores principales: | 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., Hurles, Matthew E. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6789007/ https://www.ncbi.nlm.nih.gov/pubmed/31604926 http://dx.doi.org/10.1038/s41467-019-12520-y |
Ejemplares similares
-
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders
por: Gardner, Eugene J., et al.
Publicado: (2021) -
Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data
por: Wright, C. F., et al.
Publicado: (2019) -
Author Correction: Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data
por: Wright, C. F., et al.
Publicado: (2022) -
Genetic and chemotherapeutic influences on germline hypermutation
por: Kaplanis, Joanna, et al.
Publicado: (2022) -
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1133 families with developmental disorders
por: Wright, Caroline F., et al.
Publicado: (2018)