Document Detail


Approximate confidence intervals for risk prediction in genetic counseling.
MedLine Citation:
PMID:  3459355     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
In current genetic counseling practice, a single risk estimate is often quoted to a family rather than a range of risks. Such point estimates are predicated on knowing basic parameters like recombination fractions exactly when, in fact, there may be considerable uncertainty about them. Using the large sample theory of statistics, it is possible to derive approximate risk intervals that incorporate known statistical imprecision. The necessary theory will be briefly discussed and illustrated by an application to family counseling for Duchenne muscular dystrophy in the presence of two flanking markers. Some of the problems of the theory will be mentioned. These include lack of adequate sample size to justify the conclusions of large sample theory, pronounced nonlinearity in the risk function, and failure to take into proper account genetic interference. Except in trivial cases, sophisticated computer software is needed to carry out the computations of risk intervals.
Authors:
K Lange
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of human genetics     Volume:  38     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1986 May 
Date Detail:
Created Date:  1986-07-21     Completed Date:  1986-07-21     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  681-7     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Female
Genetic Counseling*
Genetic Markers
Humans
Male
Muscular Dystrophies / genetics
Pedigree
Risk
Software
Statistics as Topic
Grant Support
ID/Acronym/Agency:
AM-33329/AM/NIADDK NIH HHS; K04-HD-003070/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/Genetic Markers
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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