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cn.FARMS: a probabilistic model to detect DNA copy numbers Nature Precedings
Djork-Arné Clevert; Andreas Mitterecker; Andreas Mayr; Robert Burger; An De Bondt; Marianne Tuefferd; Willem Talloen; Hinrich Göhlmann; Sepp Hochreiter.
Motivation: Existing pre-processing methods for DNA microarrays designed to detect copy number variations (CNVs) lead to high false discovery rates (FDRs). High FDRs misguide researchers especially in the medical context where CNVs are wrongly associated with diseases. We propose a probabilistic latent variable model, cn.FARMS, for array-based CNV analysis which controls the FDR without loss of sensitivity. At a DNA region, cn.FARMS constructs a model by a Bayesian maximum a posteriori estimation where the unobserved, latent variable represents the copy number that is measured by observed genetic markers (probes). The latent variable’s prior prefers parameters which represent the null hypothesis, (same copy number for all samples), from which...
Tipo: Poster Palavras-chave: Bioinformatics.
Ano: 2010 URL: http://precedings.nature.com/documents/4712/version/1
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A normalization technique for next generation sequencing experiments Nature Precedings
Günter Klambauer; Karin Schwarzbauer; Andreas Mayr; Sepp Hochreiter.
Next generation sequencing (NGS) are these days one of the key technologies in biology. NGS' cost effectiveness and capability of finding the smallest variations in the genome makes them increasingly popular. For studies aiming at genome assembly, differences in read count statistics do not affect the outcome. However, these differences bias the outcome if the goal is to identify structural DNA characteristics like copy number variations (CNVs). Thus a normalization step must removed such random read count variations subsequently read counts from different experiments are comparable. Especially after normalization the commonly used assumption of Poisson read count distribution in windows on the chromosomes is more justified. Strong deviations of...
Tipo: Poster Palavras-chave: Genetics & Genomics; Molecular Cell Biology; Bioinformatics.
Ano: 2010 URL: http://precedings.nature.com/documents/4710/version/1
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Detection of Nonlinear Effects in Gene Expression Pathways Nature Precedings
Andreas Mayr; Djork-Arne Clevert; Sepp Hochreiter.
One of the main topics in systems biology is to model genetic pathways. Genes of a pathway, which show linear dependencies of their expression values, are easy to identify to belong to the pathway. However, if feedback loops or signal cascades are present, gene expression values of pathway genes can be nonlinearly dependent on the expression values of other genes in the pathway. In this situation such genes are hard to detect as belonging to the pathway because nonlinearity and noise must be distinguished.

We propose an algorithm to infer nonlinear network elements in pathways from microarray data. Our model assumes, that gene expression values, belonging to one pathway, are mainly driven by one single latent factor. We...
Tipo: Poster Palavras-chave: Bioinformatics.
Ano: 2010 URL: http://precedings.nature.com/documents/4715/version/1
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Identifying Copy Number Variations based on Next Generation Sequencing Data by a Mixture of Poisson Model Nature Precedings
Karin Schwarzbauer; Günter Klambauer; Andreas Mayr; Sepp Hochreiter.
Next generation sequencing (NGS) technologies have profoundly impacted biological research and are becoming more and more popular due to cost effectiveness and their speed. NGS can be utilized to identify DNA structural variants, namely copy number variations (CNVs) which showed association with diseases like HIV, diabetes II, or cancer.

There have been first approaches to detect CNVs in NGS data, where most of them detect a CNV by a significant difference of read counts within neighboring windows at the chromosome. However these methods suffer from systematical variations of the underlying read count distributions along the chromosome due to biological and technical noise. In contrast to these global methods, we locally...
Tipo: Poster Palavras-chave: Genetics & Genomics; Bioinformatics.
Ano: 2010 URL: http://precedings.nature.com/documents/4716/version/1
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A normalization technique for next generation sequencing experiments Nature Precedings
Günter Klambauer; Karin Schwarzbauer; Andreas Mayr; Sepp Hochreiter.
Next generation sequencing (NGS) are these days one of the key technologies in biology. NGS' cost effectiveness and capability of finding the smallest variations in the genome makes them increasingly popular. For studies aiming at genome assembly, differences in read count statistics do not affect the outcome. However, these differences bias the outcome if the goal is to identify structural DNA characteristics like copy number variations (CNVs). Thus a normalization step must removed such random read count variations subsequently read counts from different experiments are comparable. Especially after normalization the commonly used assumption of Poisson read count distribution in windows on the chromosomes is more justified. Strong deviations of...
Tipo: Poster Palavras-chave: Genetics & Genomics; Molecular Cell Biology; Bioinformatics.
Ano: 2010 URL: http://precedings.nature.com/documents/4710/version/2
Registros recuperados: 5
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