RESUMEN
SUMMARY: The easiest way to gain a quick overall understanding of genomic data is with a visual display that allows the user to view information about an entire genome or chromosome at once. We have constructed GenomePlot, a Perl/Tk script with a series of modules that allow us to display many types of information simultaneously. Menu options allow the user to zoom to the desired view of the data and to print or save the image to a file to produce publication quality illustrations. AVAILABILITY: The program is available on request. A license is required for commercial use.
Asunto(s)
Algoritmos , Gráficos por Computador , Sistemas de Administración de Bases de Datos , Genómica/métodos , Almacenamiento y Recuperación de la Información/métodos , Análisis de Secuencia de ADN/métodos , Programas Informáticos , Interfaz Usuario-Computador , Genoma , Hipermedia , Lenguajes de Programación , Alineación de Secuencia/métodosRESUMEN
Asthma is a common respiratory disorder characterized by recurrent episodes of coughing, wheezing and breathlessness. Although environmental factors such as allergen exposure are risk factors in the development of asthma, both twin and family studies point to a strong genetic component. To date, linkage studies have identified more than a dozen genomic regions linked to asthma. In this study, we performed a genome-wide scan on 460 Caucasian families and identified a locus on chromosome 20p13 that was linked to asthma (log(10) of the likelihood ratio (LOD), 2.94) and bronchial hyperresponsiveness (LOD, 3.93). A survey of 135 polymorphisms in 23 genes identified the ADAM33 gene as being significantly associated with asthma using case-control, transmission disequilibrium and haplotype analyses (P = 0.04 0.000003). ADAM proteins are membrane-anchored metalloproteases with diverse functions, which include the shedding of cell-surface proteins such as cytokines and cytokine receptors. The identification and characterization of ADAM33, a putative asthma susceptibility gene identified by positional cloning in an outbred population, should provide insights into the pathogenesis and natural history of this common disease.