Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese
por: Gratten, Jacob, et al.
Publicado: (2017) -
Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis
por: Nabais, Marta F., et al.
Publicado: (2020) -
Novel Variants of ANO5 in Two Patients With Limb Girdle Muscular Dystrophy: Case Report
por: Katz, Matthew, et al.
Publicado: (2022) -
Hypermetabolism in ALS is associated with greater functional decline and shorter survival
por: Steyn, Frederik J, et al.
Publicado: (2018) -
Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis
por: Benyamin, Beben, et al.
Publicado: (2017)