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MBASED: allele-specific expression detection in cancer tissues and cell lines | Genome Biology
Description:
Allele-specific gene expression, ASE, is an important aspect of gene regulation. We developed a novel method MBASED, meta-analysis based allele-specific expression detection for ASE detection using RNA-seq data that aggregates information across multiple single nucleotide variation loci to obtain a gene-level measure of ASE, even when prior phasing information is unavailable. MBASED is capable of one-sample and two-sample analyses and performs well in simulations. We applied MBASED to a panel of cancer cell lines and paired tumor-normal tissue samples, and observed extensive ASE in cancer, but not normal, samples, mainly driven by genomic copy number alterations.
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Keywords {π}
ase, genes, samples, mbased, gene, snv, data, snvs, pubmed, cancer, tumor, analysis, allele, expression, article, additional, file, normal, observed, haplotype, maf, google, scholar, sample, allelic, haplotypes, methods, hap, individual, instances, true, information, onesample, cell, rnaseq, counts, number, figure, twosample, tissue, found, cas, read, major, genome, lines, sequencing, estimate, pvalue, tested,
Topics {βοΈ}
anti-conservative nominal p-values nominal meta-analysis-derived p genome-wide allele-specific analysis excessive inter-loci variability high-throughput transcriptome resequencing multi-mapping rna-seq reads pre-existing allelic bias article download pdf detecting allele-specific expression read count-generating probabilities align reference-supporting read investigating allele-specific expression allele-specific expression assays allele-specific expression detection triple-negative breast cancer variance-stabilizing freeman-tukey allele-specific gene expression pro-apoptotic factor exhibits tumor-specific ase high rna-seq coverage isoform-specific ase occurring isoform-specific ase playing meta-analytic approach adopted paired tumor-normal lung tumor-derived 'minor' haplotype rna-seq data sets assigning snv-level alleles higher rna-seq coverage highest rna-seq coverage matched rna-seq sample tumor-normal allelic imbalance inter-loci variability post-transcriptional suppression resolve snv-level information variant effect predictor variance-stabilizing transformation prior population genetics-based approaches cancer-related genes myh9 true tumor-specific ase na12878 rna-seq data inter-snv variability cancer-specific ase point full size image recurrent normal-specific ase tumor suppressor eaf2[29] small reported p-values recurrent cancer-specific ase paired tissue-normal samples tissue-specific genomic imprinting show tumor-specific ase
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headline:MBASED: allele-specific expression detection in cancer tissues and cell lines
description:Allele-specific gene expression, ASE, is an important aspect of gene regulation. We developed a novel method MBASED, meta-analysis based allele-specific expression detection for ASE detection using RNA-seq data that aggregates information across multiple single nucleotide variation loci to obtain a gene-level measure of ASE, even when prior phasing information is unavailable. MBASED is capable of one-sample and two-sample analyses and performs well in simulations. We applied MBASED to a panel of cancer cell lines and paired tumor-normal tissue samples, and observed extensive ASE in cancer, but not normal, samples, mainly driven by genomic copy number alterations.
datePublished:2014-08-07T00:00:00Z
dateModified:2014-08-07T00:00:00Z
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Read Count
Allelic Imbalance
Tumor Tissue Sample
Copy Number Loss
Variant Effect Predictor
Animal Genetics and Genomics
Human Genetics
Plant Genetics and Genomics
Microbial Genetics and Genomics
Bioinformatics
Evolutionary Biology
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headline:MBASED: allele-specific expression detection in cancer tissues and cell lines
description:Allele-specific gene expression, ASE, is an important aspect of gene regulation. We developed a novel method MBASED, meta-analysis based allele-specific expression detection for ASE detection using RNA-seq data that aggregates information across multiple single nucleotide variation loci to obtain a gene-level measure of ASE, even when prior phasing information is unavailable. MBASED is capable of one-sample and two-sample analyses and performs well in simulations. We applied MBASED to a panel of cancer cell lines and paired tumor-normal tissue samples, and observed extensive ASE in cancer, but not normal, samples, mainly driven by genomic copy number alterations.
datePublished:2014-08-07T00:00:00Z
dateModified:2014-08-07T00:00:00Z
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Read Count
Allelic Imbalance
Tumor Tissue Sample
Copy Number Loss
Variant Effect Predictor
Animal Genetics and Genomics
Human Genetics
Plant Genetics and Genomics
Microbial Genetics and Genomics
Bioinformatics
Evolutionary Biology
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