Abstract
A high-throughput resequencing technology has brought family based studies back into genetic research focus Within-family outliers (the individuals whose phenotype is very much unlike the phenotype of relatives) may carry rare variants of large effects and thus resequencing of these provides a highly powered strategy for rare variants detection On the other hand such outliers may complicate search for common variants of smaller effects because they may obscure a real linkage signal We have developed a program Ped_Outlier allowing automatic detection of within-family outliers in a sample of pedigrees of arbitrary structure and size We tested our program by identification of within-family outliers for adult height and intracranial volume in large pedigree Results of linkage analysis of these traits demonstrated that identification of within-family outliers is one of the important steps of pedigree analysis The program Ped outlier is freely available at http //mga bionet nsc ru/soft/index html (C) 2010 Elsevier Ltd All rights reserved
Original language | Undefined/Unknown |
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Pages (from-to) | 242-243 |
Number of pages | 2 |
Journal | Computational Biology and Chemistry |
Volume | 34 |
Issue number | 4 |
DOIs | |
Publication status | Published - 2010 |