Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta

<p>Abstract</p> <p>Background</p> <p>The monogenic disease osteogenesis imperfecta (OI) is due to single mutations in either of the collagen genes ColA1 or ColA2, but within the same family a given mutation is accompanied by a wide range of disease severity. Although this phenotypic variability implies the existence of modifier gene variants, genome wide scanning of DNA from OI patients has not been reported. Promising genome wide marker-independent physical methods for identifying disease-related loci have lacked robustness for widespread applicability. Therefore we sought to improve these methods and demonstrate their performance to identify known and novel loci relevant to OI.</p> <p>Results</p> <p>We have improved methods for enriching regions of identity-by-descent (IBD) shared between related, afflicted individuals. The extent of enrichment exceeds 10- to 50-fold for some loci. The efficiency of the new process is shown by confirmation of the identification of the Col1A2 locus in osteogenesis imperfecta patients from Amish families. Moreover the analysis revealed additional candidate linkage loci that may harbour modifier genes for OI; a locus on chromosome 1q includes COX-2, a gene implicated in osteogenesis.</p> <p>Conclusion</p> <p>Technology for physical enrichment of IBD loci is now robust and applicable for finding genes for monogenic diseases and genes for complex diseases. The data support the further investigation of genetic loci other than collagen gene loci to identify genes affecting the clinical expression of osteogenesis imperfecta. The discrimination of IBD mapping will be enhanced when the IBD enrichment procedure is coupled with deep resequencing.</p

Sistema para gestión y control de cobranzas a través de dispositivos móviles

In this present project one tries to offer to the Ecuadorian industries a " System of support for the management of collection " that allows to realize a rapid and effective management in order to make the recovery of portfolio agile and to prevent the clients from falling down in sections of maturities. The tool of support proposes to be a support in the management of collection since it seeks to cover the needs of the companies that want to diminish the percentage of irrecoverable portfolio and in turn to have a better communication with his clients. The solution is directed the industrial Ecuadoran market as an instrument of support the capture of decisions the Management of Marketing to personalize the management of the clients who are to the day, which invoices have for winning (expiring), or who have n days of maturity for an efficient control that allows to reduce affects of delinquency and to increase his efficiency in the management of collections and for ended of the return of the investment and to improve the circulating reason

Desarrollo e implementación de un sistema de gestión de asignación de aulas y laboratoríos

The Faculty of philosophy of the University of Guayaquil is one of those that but students have next to that of medicine, approximately 18.000 students distributed therefore in the morning, evening, night then have been increased the classrooms (aprox 150) and computation laboratories (15) and due to this It gets complicated the organization of schedules and the classrooms and laboratories. because it doesn't exist an efficient control of all the laboratories neither available classrooms and occupied in certain schedule, neither a control of the whole software installed in each laboratory to be able to assign technical matters in the laboratory that has the software that it will see in that matter. Therefore It has intended the development of a system that allows in a more agile and more efficient way to manage the assignment of classrooms and laboratories with each academic unit. , allowing the regular secretaries of the same ones to enter the information and that it is processed in that moment for this way to be able to have a control of classrooms and available laboratories and to improve the process of creation of schedules of class

Portal de compras on-line para solnegsa

The modern life is strong, the utilization of the time is a challenge and a need that it must be covered for the different companies that offer services, especially those that are of massive concurrence. One of the places that sues for considerable time they are the supermarkets, specially to the moment to realize the payments in the cashier. The website that is hability electronic commerce are the best alternative to the purchases of supermarket worldwide. This document has as aim implement a website of electronic commerce for Solnegsa, a company that nowadays have a departmental shop and decides to implement website to offer major comfort to its customers on having realized his purchases comfortably from his home, avoiding the long tails of wait in cashier and the annoying move from his purchases to the home, avoiding also the use of ready money and offering the facility to the client of choosing the date and hour of the delivery. One presents the situational, technological and financial analysis of the Project where it is considered to be the development, implementation, advertising, benefits and economic proposal

Desarrollo de un sistema biometrico de control de acceso de entrada y salida vehicular

Any access control system aims to allow entry of personnel authorized to specific sites. Access systems based on licenses authorize pieces of plastic, but cannot distinguish who carries the carnet. Systems that use personal identification numbers only require that an individual knows a specific number to grant access. Biometric devices verified the identity of a person through physical characteristics unique and unchanging as the dimensions of the hand, peculiarities or measures of the eyes, fingerprints or voice. This document aims to implement a control security in what refers to access vehicle to the parking garages of the Espol by an isolated or standalone device consisting of a biometric reader and a driver door full for a single door. Acceptance of the user will always be an essential factor in the successful implementation of a biometric device. We present the financial analysis of the marketing of a biometric system along with their fingerprint reading devices with which companies or institutions concerned can examine this economic proposal, its benefits and new business opportunities

Implementación de sistema de control de logística para comercio exteríor

At present, companies engaged in exporting tropical fruits in Ecuador do not have a tool to track orders requested by customers; this is the reason why the TradeLog System, version 1.0 has been developed as a decision-making support system oriented to control activities related to foreign trade logistics, allowing companies to offer to their customers information about the different stages in which an order could be at. These stages are: order registration, production, seaport transfer, shipping and navigation. This solution aims to strengthen trade relationships between companies and their customers, by keeping them informed at any given time about incidents that could occur during the exporting process, as well as transit ports, final destinations and estimated time of arrival. Customers can track the order through the company's Web site and receive automatic email notifications of further stages completed, identifying possible pitfalls and their causes to make decision-making processes easier. The objectives sought by deploying the TradeLog 1.0 System in The Banana Export Company are: reducing administrative costs, streamlining staff activities in Foreign Trade and Operations areas, avoiding potential issues in export stages and letting customers know about the origins of production orders as well as informing them about incidents presented as soon as they happen

Comercialización de un sistema administrador de cambios en el desarrollo de aplicaciones informáticas

efficiently control the developing process. This control will optimize the resources assigned to the projects and minimize systems failures that could affect the operation of the company. Based on that facts, it has been set an excellent opportunity to design, build and market a tool that help companies that develop application software to manage, check and control in a efficient way the changes produced by their software. Using ADCA as a tool to support the change management in application software will meaningfully reduce the risk of unexpected interruptions and will lead the company to a controlled human resource assignment. The support will be help by having gathered all the changes made to the application software in one main repository. In addition, ADCA will help companies to make decisions and to improve their operation by having statistics reports of fulfillment and performance

Automatización del proceso de tomas de inventaríos a traves de handhelds para la empresa retail s.a.

Today enterprises address the problem of inventory management, because depending on the company have a large quantity of items that represent costs. For this reason has been the need to develop a solution prior to a management level strategic planning to support decision making, enabling improved performance and getting resources to optimize efficiency and allowing the deployment of strategic initiatives. With the solution for automating the inventory-making process, the company will benefit as control and reduce the risk of loss of inventory, significantly reducing time in the process, saving operating costs - administrative, reliability, on-line registration physical taking, and speed in obtaining results, and also avoid closing stores and losing sales opportunities. These benefits and improvements will enable the firm to obtain better manage their inventories thus increased productivity