Comput Biol Chem - Ped_Outlier software for automatic identification of within-family outliers.

Tópicos

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Resumo

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.

Resumo Limpo

highthroughput resequenc technolog brought famili base studi back genet research focus withinfamili outlier individu whose phenotyp much unlik phenotyp relat may carri rare variant larg effect thus resequenc provid high power strategi rare variant detect hand outlier may complic search common variant smaller effect may obscur real linkag signal develop program pedoutli allow automat detect withinfamili outlier sampl pedigre arbitrari structur size test program identif withinfamili outlier adult height intracrani volum larg pedigre result linkag analysi trait demonstr identif withinfamili outlier one import step pedigre analysi program pedoutli freeli avail httpmgabionetnscrusoftindexhtml

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