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计算机模拟是基因分析中一种被低估的工具:基于历史视角对SHIMSHON(一个基于网络的基因模拟软件包)的介绍

Computer simulation is an undervalued tool for genetic analysis: a historical view and presentation of SHIMSHON--a Web-based genetic simulation package.

作者信息

Greenberg David A

机构信息

Division of Statistical Genetics, Department of Biostatistics, Mailman School of Public Health, Columbia University Medical Center and the New York State Psychiatric Institute, 722 W. 168th Street, New York, NY 10032, USA.

出版信息

Hum Hered. 2011;72(4):247-57. doi: 10.1159/000330633. Epub 2011 Dec 23.

Abstract

Computer simulation methods are under-used tools in genetic analysis because simulation approaches have been portrayed as inferior to analytic methods. Even when simulation is used, its advantages are not fully exploited. Here, I present SHIMSHON, our package of genetic simulation programs that have been developed, tested, used for research, and used to generated data for Genetic Analysis Workshops (GAW). These simulation programs, now web-accessible, can be used by anyone to answer questions about designing and analyzing genetic disease studies for locus identification. This work has three foci: (1) the historical context of SHIMSHON's development, suggesting why simulation has not been more widely used so far. (2) Advantages of simulation: computer simulation helps us to understand how genetic analysis methods work. It has advantages for understanding disease inheritance and methods for gene searches. Furthermore, simulation methods can be used to answer fundamental questions that either cannot be answered by analytical approaches or cannot even be defined until the problems are identified and studied, using simulation. (3) I argue that, because simulation was not accepted, there was a failure to grasp the meaning of some simulation-based studies of linkage. This may have contributed to perceived weaknesses in linkage analysis; weaknesses that did not, in fact, exist.

摘要

计算机模拟方法在遗传分析中是未得到充分利用的工具,因为模拟方法一直被认为不如分析方法。即使使用了模拟,其优势也未得到充分发挥。在此,我介绍SHIMSHON,这是我们开发、测试、用于研究并为遗传分析研讨会(GAW)生成数据的一套遗传模拟程序。这些模拟程序现在可通过网络访问,任何人都可以使用它们来回答有关设计和分析基因疾病研究以进行基因座鉴定的问题。这项工作有三个重点:(1)SHIMSHON开发的历史背景,说明为何到目前为止模拟尚未得到更广泛的应用。(2)模拟的优势:计算机模拟有助于我们理解遗传分析方法的工作原理。它在理解疾病遗传和基因搜索方法方面具有优势。此外,模拟方法可用于回答一些基本问题,这些问题要么无法通过分析方法回答,要么在使用模拟识别和研究问题之前甚至无法定义。(3)我认为,由于模拟未被接受,导致未能理解一些基于模拟的连锁研究的意义。这可能导致了连锁分析中被认为存在的弱点;而实际上这些弱点并不存在。

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