dsPIG: a tool to predict imprinted genes from the deep sequencing of whole transcriptomes

<p>Abstract</p> <p>Background</p> <p>Dysregulation of imprinted genes, which are expressed in a parent-of-origin-specific manner, plays an important role in various human diseases, such as cancer and behavioral disorder. To date, however, fewer than 100 imprinted genes...

Full description

Bibliographic Details
Main Authors: Li Hua, Su Xiao, Gallegos Juan, Lu Yue, Ji Yuan, Molldrem Jeffrey J, Liang Shoudan
Format: Article
Language:English
Published: BMC 2012-10-01
Series:BMC Bioinformatics
Subjects:
Online Access:http://www.biomedcentral.com/1471-2105/13/271
_version_ 1811260482317713408
author Li Hua
Su Xiao
Gallegos Juan
Lu Yue
Ji Yuan
Molldrem Jeffrey J
Liang Shoudan
author_facet Li Hua
Su Xiao
Gallegos Juan
Lu Yue
Ji Yuan
Molldrem Jeffrey J
Liang Shoudan
author_sort Li Hua
collection DOAJ
description <p>Abstract</p> <p>Background</p> <p>Dysregulation of imprinted genes, which are expressed in a parent-of-origin-specific manner, plays an important role in various human diseases, such as cancer and behavioral disorder. To date, however, fewer than 100 imprinted genes have been identified in the human genome. The recent availability of high-throughput technology makes it possible to have large-scale prediction of imprinted genes. Here we propose a Bayesian model (dsPIG) to predict imprinted genes on the basis of allelic expression observed in mRNA-Seq data of independent human tissues.</p> <p>Results</p> <p>Our model (dsPIG) was capable of identifying imprinted genes with high sensitivity and specificity and a low false discovery rate when the number of sequenced tissue samples was fairly large, according to simulations. By applying dsPIG to the mRNA-Seq data, we predicted 94 imprinted genes in 20 cerebellum samples and 57 imprinted genes in 9 diverse tissue samples with expected low false discovery rates. We also assessed dsPIG using previously validated imprinted and non-imprinted genes. With simulations, we further analyzed how imbalanced allelic expression of non-imprinted genes or different minor allele frequencies affected the predictions of dsPIG. Interestingly, we found that, among biallelically expressed genes, at least 18 genes expressed significantly more transcripts from one allele than the other among different individuals and tissues.</p> <p>Conclusion</p> <p>With the prevalence of the mRNA-Seq technology, dsPIG has become a useful tool for analysis of allelic expression and large-scale prediction of imprinted genes. For ease of use, we have set up a web service and also provided an R package for dsPIG at <url>http://www.shoudanliang.com/dsPIG/</url>.</p>
first_indexed 2024-04-12T18:48:00Z
format Article
id doaj.art-4a1313d8ace2434dbbd8881c90cab722
institution Directory Open Access Journal
issn 1471-2105
language English
last_indexed 2024-04-12T18:48:00Z
publishDate 2012-10-01
publisher BMC
record_format Article
series BMC Bioinformatics
spelling doaj.art-4a1313d8ace2434dbbd8881c90cab7222022-12-22T03:20:33ZengBMCBMC Bioinformatics1471-21052012-10-0113127110.1186/1471-2105-13-271dsPIG: a tool to predict imprinted genes from the deep sequencing of whole transcriptomesLi HuaSu XiaoGallegos JuanLu YueJi YuanMolldrem Jeffrey JLiang Shoudan<p>Abstract</p> <p>Background</p> <p>Dysregulation of imprinted genes, which are expressed in a parent-of-origin-specific manner, plays an important role in various human diseases, such as cancer and behavioral disorder. To date, however, fewer than 100 imprinted genes have been identified in the human genome. The recent availability of high-throughput technology makes it possible to have large-scale prediction of imprinted genes. Here we propose a Bayesian model (dsPIG) to predict imprinted genes on the basis of allelic expression observed in mRNA-Seq data of independent human tissues.</p> <p>Results</p> <p>Our model (dsPIG) was capable of identifying imprinted genes with high sensitivity and specificity and a low false discovery rate when the number of sequenced tissue samples was fairly large, according to simulations. By applying dsPIG to the mRNA-Seq data, we predicted 94 imprinted genes in 20 cerebellum samples and 57 imprinted genes in 9 diverse tissue samples with expected low false discovery rates. We also assessed dsPIG using previously validated imprinted and non-imprinted genes. With simulations, we further analyzed how imbalanced allelic expression of non-imprinted genes or different minor allele frequencies affected the predictions of dsPIG. Interestingly, we found that, among biallelically expressed genes, at least 18 genes expressed significantly more transcripts from one allele than the other among different individuals and tissues.</p> <p>Conclusion</p> <p>With the prevalence of the mRNA-Seq technology, dsPIG has become a useful tool for analysis of allelic expression and large-scale prediction of imprinted genes. For ease of use, we have set up a web service and also provided an R package for dsPIG at <url>http://www.shoudanliang.com/dsPIG/</url>.</p>http://www.biomedcentral.com/1471-2105/13/271Prediction of imprinted genesTranscriptome deep sequencingmRNA-SeqBayesian modelAnalysis of allelic expression
spellingShingle Li Hua
Su Xiao
Gallegos Juan
Lu Yue
Ji Yuan
Molldrem Jeffrey J
Liang Shoudan
dsPIG: a tool to predict imprinted genes from the deep sequencing of whole transcriptomes
BMC Bioinformatics
Prediction of imprinted genes
Transcriptome deep sequencing
mRNA-Seq
Bayesian model
Analysis of allelic expression
title dsPIG: a tool to predict imprinted genes from the deep sequencing of whole transcriptomes
title_full dsPIG: a tool to predict imprinted genes from the deep sequencing of whole transcriptomes
title_fullStr dsPIG: a tool to predict imprinted genes from the deep sequencing of whole transcriptomes
title_full_unstemmed dsPIG: a tool to predict imprinted genes from the deep sequencing of whole transcriptomes
title_short dsPIG: a tool to predict imprinted genes from the deep sequencing of whole transcriptomes
title_sort dspig a tool to predict imprinted genes from the deep sequencing of whole transcriptomes
topic Prediction of imprinted genes
Transcriptome deep sequencing
mRNA-Seq
Bayesian model
Analysis of allelic expression
url http://www.biomedcentral.com/1471-2105/13/271
work_keys_str_mv AT lihua dspigatooltopredictimprintedgenesfromthedeepsequencingofwholetranscriptomes
AT suxiao dspigatooltopredictimprintedgenesfromthedeepsequencingofwholetranscriptomes
AT gallegosjuan dspigatooltopredictimprintedgenesfromthedeepsequencingofwholetranscriptomes
AT luyue dspigatooltopredictimprintedgenesfromthedeepsequencingofwholetranscriptomes
AT jiyuan dspigatooltopredictimprintedgenesfromthedeepsequencingofwholetranscriptomes
AT molldremjeffreyj dspigatooltopredictimprintedgenesfromthedeepsequencingofwholetranscriptomes
AT liangshoudan dspigatooltopredictimprintedgenesfromthedeepsequencingofwholetranscriptomes