Suppr超能文献

评估拟进行的连锁研究的效能:一种实用的计算机模拟方法。

Estimating the power of a proposed linkage study: a practical computer simulation approach.

作者信息

Boehnke M

出版信息

Am J Hum Genet. 1986 Oct;39(4):513-27.

Abstract

I describe a simulation method to estimate the power to detect linkage given a set of pedigrees of known structure and for which family history data may be available. This method can be applied to autosomal and X-linked dominant diseases; depending on the pedigrees under consideration, it will often be applicable for autosomal and X-linked recessive diseases. This power calculation can most usefully be undertaken after family history data are gathered, but prior to examination and testing of pedigree members to obtain marker information. Of key importance, the power calculation is straightforward to carry out and not too time-consuming; it is practical even on a microcomputer. The result of the power calculation is an objective answer to the question: Will my families be sufficient to demonstrate linkage?

摘要

我描述了一种模拟方法,用于在给定一组已知结构的家系且可能有家系病史数据的情况下,估计检测连锁的效能。该方法可应用于常染色体显性疾病和X连锁显性疾病;根据所考虑的家系情况,它通常也适用于常染色体隐性疾病和X连锁隐性疾病。这种效能计算最适合在收集家系病史数据之后,但在对家系成员进行检查和检测以获取标记信息之前进行。至关重要的是,效能计算易于执行且不太耗时;即使在微型计算机上也切实可行。效能计算的结果是对以下问题的客观回答:我的家系足以证明连锁关系吗?

相似文献

5
An extension of the Maximum Lod Score method to X-linked loci.最大似然比分数法对X连锁基因座的扩展。
Ann Hum Genet. 1995 Oct;59(4):435-49. doi: 10.1111/j.1469-1809.1995.tb00761.x.
10
Improving pedigree-based linkage analysis by estimating coancestry among families.通过估计家族间的共同祖先来改进基于家系的连锁分析。
Stat Appl Genet Mol Biol. 2012 Jan 6;11(2):/j/sagmb.2012.11.issue-2/1544-6115.1718/1544-6115.1718.xml. doi: 10.2202/1544-6115.1718.

引用本文的文献

5
A new locus for familial FSGS on chromosome 2p.家族性局灶节段性肾小球硬化症的 2p 染色体新位点。
J Am Soc Nephrol. 2010 Aug;21(8):1390-7. doi: 10.1681/ASN.2009101046. Epub 2010 Jul 8.
7
Most parsimonious haplotype allele sharing determination.最简约单倍型等位基因共享判定
BMC Bioinformatics. 2009 Apr 21;10:115. doi: 10.1186/1471-2105-10-115.

本文引用的文献

1
The mapping of human chromosomes.人类染色体的图谱绘制。
Annu Rev Genet. 1971;5:81-120. doi: 10.1146/annurev.ge.05.120171.000501.
5
On the lod score method in linkage analysis.关于连锁分析中的对数优势计分法。
Ann Hum Genet. 1984 Oct;48(4):359-78. doi: 10.1111/j.1469-1809.1984.tb00849.x.
7
The impact of RFLPs on human gene mapping.
Prog Clin Biol Res. 1984;147:271-92.
10
The prior probability of autosomal linkage.常染色体连锁的先验概率。
Ann Hum Genet. 1975 Jan;38(3):341-50. doi: 10.1111/j.1469-1809.1975.tb00619.x.

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验