Suppr超能文献

在单重和多重同胞组的扩展范围内,将观察到的受影响同胞的平均数量与几何确定偏倚下预期的数量进行比较。

Comparing observed average numbers of affected sibs with those expected under geometric ascertainment bias in an extended range in both simplex and multiple sibships.

作者信息

Sit K H

机构信息

Department of Anatomy, National University of Singapore, Kent Ridge.

出版信息

Am J Hum Genet. 1989 Sep;45(3):388-400.

Abstract

Detection bias in recessive ascertainment is generally considered to be confined in a narrow range between unbiased truncate ascertainment and single ascertainment, where methods of segregation analysis are established. While there are arguments for an extended range of analysis, a deflated detection progression below the unbiased level is still being considered as theoretical ground or ignored as sporadics. I show here a method of gauging the ascertainment levels of surveyed data in a geometric continuum. The method is valid for recessive segregation at any ascertainment level and in simplex or multiplex sibships of whatever degree of truncation. Four previously published surveys are used to show conformation with real data and the existence of detection trends spanning the range from the unsuspected very depressed bias level to the inflated level above single ascertainment.

摘要

隐性确认中的检测偏倚通常被认为局限于无偏截断确认和单一确认之间的狭窄范围内,在此范围内已经建立了分离分析方法。虽然有人主张扩大分析范围,但低于无偏水平的检测进展仍被视为理论依据或被视为偶发情况而被忽略。我在此展示一种在几何连续体中衡量调查数据确认水平的方法。该方法适用于任何确认水平下的隐性分离,以及任何截断程度的单重或多重同胞关系。使用四项先前发表的调查来证明与实际数据的一致性,以及存在从未被怀疑的极低偏差水平到高于单一确认的膨胀水平的检测趋势。

相似文献

2
Rheumatic fever susceptibility in four ascertainments: regressive segregation on a geometric ascertainment pattern.
J Hered. 1990 Nov-Dec;81(6):428-33. doi: 10.1093/oxfordjournals.jhered.a111020.
3
Evaluation of segregation ratio in Wilson's disease.
J Med Genet. 1983 Aug;20(4):271-5. doi: 10.1136/jmg.20.4.271.
4
Correcting for ascertainment bias of relative-risk estimates obtained using affected-sib-pair linkage data.
Genet Epidemiol. 2000 Apr;18(4):307-21. doi: 10.1002/(SICI)1098-2272(200004)18:4<307::AID-GEPI4>3.0.CO;2-3.
6
Testing the Mendelian segregation ratio under incomplete ascertainment.
Hum Hered. 1975;25(3):194-203. doi: 10.1159/000152726.
7
Ascertainment corrections based on smaller family units.
Am J Hum Genet. 1998 Oct;63(4):1202-15. doi: 10.1086/302057.
9
Estimation of segregation and ascertainment probabilities by discarding the single probands.
Genet Epidemiol. 1987;4(3):185-91. doi: 10.1002/gepi.1370040303.

本文引用的文献

1
A genetic and statistical study of psoriasis.
Am J Hum Genet. 1951 Sep;3(3):267-81.
2
RECESSIVE GENES IN SEVERE MENTAL DEFECT.
Am J Hum Genet. 1965 May;17(3):237-56.
3
DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME.
Bull Johns Hopkins Hosp. 1964 Oct;115:306-36.
4
A note on the effects of method of ascertainment on segregation ratios.
Ann Hum Genet. 1959 Jul;23:311-23. doi: 10.1111/j.1469-1809.1959.tb01474.x.
7
Multiplex families with two or more probands.
Am J Hum Genet. 1968 Jul;20(4):361-7.
9
Segregation analysis for complex modes of inheritance.
Am J Hum Genet. 1970 Mar;22(2):129-44.
10
Psoriasis of early and late onset: characterization of two types of psoriasis vulgaris.
J Am Acad Dermatol. 1985 Sep;13(3):450-6. doi: 10.1016/s0190-9622(85)70188-0.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验