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Effects of updating linkage evidence across subsets of data: reanalysis of the autism genetic resource exchange data set.

Abstract：

:Results of autism linkage studies have been difficult to interpret across research groups, prompting the use of ever-increasing sample sizes to increase power. However, increasing sample size by pooling disparate collections for a single analysis may, in fact, not increase power in the face of genetic heterogeneity. Here, we applied the posterior probability of linkage (PPL), a method designed specifically to analyze multiple heterogeneous data sets, to the Autism Genetic Resource Exchange collection of families by analyzing six clinically defined subsets of the data and updating the PPL sequentially over the subsets. Our results indicate a substantial probability of linkage to chromosome 1, which had been previously overlooked; our findings also provide a further characterization of the possible parent-of-origin effects at the 17q11 locus that were previously described in this sample. This analysis illustrates that the way in which heterogeneity is addressed in linkage analysis can dramatically affect the overall conclusions of a linkage study.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Bartlett CW,Goedken R,Vieland VJ

doi

10.1086/429345

subject

Has Abstract

pub_date

2005-04-01 00:00:00

pages

688-95

issue

4

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)62880-8

journal_volume

76

pub_type

杂志文章

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