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1.
Am J Med Genet B Neuropsychiatr Genet ; 168(8): 697-705, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26333835

RESUMEN

Sleep is critical to health and functionality, and several studies have investigated the inherited component of insomnia and other sleep disorders using genome-wide association studies (GWAS). However, genome-wide studies focused on sleep duration are less common. Here, we used data from participants in the Coriell Personalized Medicine Collaborative (CPMC) (n = 4,401) to examine putative associations between self-reported sleep duration, demographic and lifestyle variables, and genome-wide single nucleotide polymorphism (SNP) data to better understand genetic contributions to variation in sleep duration. We employed stepwise ordered logistic regression to select our model and retained the following predictive variables: age, gender, weight, physical activity, physical activity at work, smoking status, alcohol consumption, ethnicity, and ancestry (as measured by principal components analysis) in our association testing. Several of our strongest candidate genes were previously identified in GWAS related to sleep duration (TSHZ2, ABCC9, FBXO15) and narcolepsy (NFATC2, SALL4). In addition, we have identified novel candidate genes for involvement in sleep duration including SORCS1 and ELOVL2. Our results demonstrate that the self-reported data collected through the CPMC are robust, and our genome-wide association analysis has identified novel candidate genes involved in sleep duration. More generally, this study contributes to a better understanding of the complexity of human sleep.


Asunto(s)
Sueño/genética , Adulto , Estudios de Cohortes , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Medicina de Precisión , Autoinforme , Trastornos del Inicio y del Mantenimiento del Sueño/genética
2.
Biopreserv Biobank ; 11(4): 216-20, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-24845588

RESUMEN

When a biological specimen is donated to a biobank such as the nonprofit Coriell Institute for Medical Research, regardless of whether that submission is sent directly or through a physician, scientist, foundation, or patient-centered advocacy organization, the donor expects their biomaterial to be processed effectively and stored in proper conditions until distribution to researchers answering scientific questions. The donor and scientific researchers rarely, if ever, consider what might happen to those specimens if the biobank experiences an adverse event, such as a disaster that compromises its business operations, including handling of samples. Management of biomaterials is not simply a laboratory process; their long-term survival is dependent on both the laboratory preparation and the infrastructure designed for maintenance, safety, and security. Coriell Institute has documented disaster preparedness plans since its inception in 1953, and currently manages hundreds of thousands of cell lines and DNA samples under ISO 9001 quality management standards, complete with a robust Emergency Operations Plan. The Institute's recent approach to preparing for Hurricane Sandy, a Category 1 hurricane that struck the East Coast of the United States in late October 2012, was two-fold. It included the validation of its long-term strategies focused on emergency back-up systems, communication solutions, and employee training, and implementation of short-term tactics such as confirming on-call emergency response personnel and safe storage options for working biomaterials and reagents. The purpose of this article is to review several best practices in use at Coriell Institute associated with disaster planning and to identify and evaluate the effectiveness of those elements in coping with Hurricane Sandy.


Asunto(s)
Bancos de Muestras Biológicas/organización & administración , Planificación en Desastres/métodos , Planificación en Desastres/tendencias , Tormentas Ciclónicas , Humanos , Guías de Práctica Clínica como Asunto , Estados Unidos
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