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多重映射:一种用于自动遗传连锁图谱构建的专家系统。

MultiMap: an expert system for automated genetic linkage mapping.

作者信息

Matise T C, Perlin M, Chakravarti A

机构信息

Department of Human Genetics, University of Pittsburgh, Pennsylvania, USA.

出版信息

Proc Int Conf Intell Syst Mol Biol. 1993;1:260-5.

PMID:7584344
Abstract

With the advent of the Human Genome Project, the ability to rapidly construct comprehensive and accurate linkage maps based on genetic marker data from family studies is an absolute necessity. In addition to their usefulness in localizing genes for both simple and complex disorders, linkage maps are invaluable tools for genetic counseling using linked marker genes. Several computer program packages are publicly available which aid in the construction of linkage maps by computing multipoint likelihoods for specified locus orders. However, these programs work in a step-by-step fashion, requiring intensive user-intervention and analysis at each step. Such a repetitive process is amenable to computerized automation. We have developed and tested an expert system computer program, MultiMap, for automated genetic linkage mapping. This program greatly reduces the amount of user-computer interaction, increasing the accuracy and speed with which a map can be constructed. In addition, because the total mapping time is greatly reduced through automation, it is now feasible to explore and compare various mapping heuristics and mapping criteria in order to develop the most appropriate approach, or set of approaches, for genetic linkage mapping. MultiMap need not be restricted to the construction of genetic maps, but could be adapted to aid in the automated construction of physical maps as well.

摘要

随着人类基因组计划的出现,基于家系研究中的遗传标记数据快速构建全面而准确的连锁图谱的能力成为绝对必要。除了在定位单基因和复杂疾病基因方面有用之外,连锁图谱对于使用连锁标记基因进行遗传咨询也是非常宝贵的工具。有几个计算机程序包可供公众使用,它们通过计算指定基因座顺序的多点似然性来帮助构建连锁图谱。然而,这些程序是按步骤工作的,在每个步骤都需要大量的用户干预和分析。这样一个重复的过程适合计算机自动化。我们已经开发并测试了一个用于自动遗传连锁图谱构建的专家系统计算机程序MultiMap。这个程序大大减少了用户与计算机的交互量,提高了构建图谱的准确性和速度。此外,由于通过自动化大大减少了总映射时间,现在探索和比较各种映射启发式方法和映射标准以开发最适合的方法或一组方法用于遗传连锁图谱构建变得可行。MultiMap不必局限于构建遗传图谱,也可以进行调整以帮助自动构建物理图谱。

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