Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort

BACKGROUND: Gene discovery has provided remarkable biological insights into amyotrophic lateral sclerosis (ALS). One challenge for clinical application of genetic testing is critical evaluation of the significance of reported variants. METHODS: We use whole exome sequencing (WES) to develop a clinic...

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Detalles Bibliográficos
Autores principales: Garton, Fleur C., Benyamin, Beben, Zhao, Qiongyi, Liu, Zhijun, Gratten, Jacob, Henders, Anjali K., Zhang, Zong‐Hong, Edson, Janette, Furlong, Sarah, Morgan, Sarah, Heggie, Susan, Thorpe, Kathryn, Pfluger, Casey, Mather, Karen A., Sachdev, Perminder S., McRae, Allan F., Robinson, Matthew R., Shah, Sonia, Visscher, Peter M., Mangelsdorf, Marie, Henderson, Robert D., Wray, Naomi R., McCombe, Pamela A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511806/
https://www.ncbi.nlm.nih.gov/pubmed/28717666
http://dx.doi.org/10.1002/mgg3.302

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511806/
https://www.ncbi.nlm.nih.gov/pubmed/28717666
http://dx.doi.org/10.1002/mgg3.302

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