Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

BACKGROUND: Intellectual Disability (ID) is among the most common global disorders, yet etiology is unknown in ~30% of patients despite clinical assessment. Whole genome sequencing (WGS) is able to interrogate the entire genome, providing potential to diagnose idiopathic patients. METHODS: We conduc...

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Detalles Bibliográficos
Autores principales: Zahir, Farah R., Mwenifumbo, Jill C., Chun, Hye-Jung E., Lim, Emilia L., Van Karnebeek, Clara D. M., Couse, Madeline, Mungall, Karen L., Lee, Leora, Makela, Nancy, Armstrong, Linlea, Boerkoel, Cornelius F., Langlois, Sylvie L., McGillivray, Barbara M., Jones, Steven J. M., Friedman, Jan M., Marra, Marco A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5442678/
https://www.ncbi.nlm.nih.gov/pubmed/28539120
http://dx.doi.org/10.1186/s12864-017-3671-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5442678/
https://www.ncbi.nlm.nih.gov/pubmed/28539120
http://dx.doi.org/10.1186/s12864-017-3671-0

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