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Original Paper

Positional Identification of Microdeletions with Genetic Markers

Amos C.I.a · Shete S.a · Chen J.a · Yu R.K.a,b

Author affiliations

aDepartment of Epidemiology, M.D. Anderson Cancer Center, and bDepartment of Computer Science, Rice University, Houston, Tex., USA

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Hum Hered 2003;56:107–118

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: May 14, 2003
Accepted: July 14, 2003
Published online: November 14, 2003
Issue release date: November 2003

Number of Print Pages: 12
Number of Figures: 2
Number of Tables: 4

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: https://www.karger.com/HHE

Abstract

The positional identification of genetic factors for both simple and complex diseases is difficult. There is increasing evidence that small deletions are a fairly common cause for many genetic diseases and some complex diseases. To date, no statistical basis has been available for the identification of microdeletions in family studies. Here, we present an approach to the identification of novel microdeletions for parent-affected offspring trios. We present several different approaches that can be applied to identify microdeletions and also evaluate the statistical behavior of one of these methods in simulated data. The results show that for the study of single nucleotide polymorphisms, the error rate has an approximately linear effect in decreasing the ability to identify microdeletions. On the other hand, heterogeneity of causation, with only some families showing a microdeletion had a more severe influence upon the ability to identify de novo microdeletions.

© 2003 S. Karger AG, Basel


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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: May 14, 2003
Accepted: July 14, 2003
Published online: November 14, 2003
Issue release date: November 2003

Number of Print Pages: 12
Number of Figures: 2
Number of Tables: 4

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: https://www.karger.com/HHE


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