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Human Genetics

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Full-Text Articles in Medical Genetics

Software For Assumption Weighting For Meta-Analysis Of Genomic Data, Debashis Ghosh, Yihan Li Jan 2011

Software For Assumption Weighting For Meta-Analysis Of Genomic Data, Debashis Ghosh, Yihan Li

Debashis Ghosh

This is the software that accompanies Li and Ghosh, "Assumption weighting for incorporating heterogeneity into meta-analysis of genomic data."


Discrete Nonparametric Algorithms For Outlier Detection With Genomic Data, Debashis Ghosh Jan 2010

Discrete Nonparametric Algorithms For Outlier Detection With Genomic Data, Debashis Ghosh

Debashis Ghosh

In high-throughput studies involving genetic data such as from gene expression mi- croarrays, dierential expression analysis between two or more experimental conditions has been a very common analytical task. Much of the resulting literature on multiple comparisons has paid relatively little attention to the choice of test statistic. In this article, we focus on the issue of choice of test statistic based on a special pattern of dierential expression. The approach here is based on recasting multiple comparisons procedures for assessing outlying expression values. A major complication is that the resulting p-values are discrete; some theoretical properties of sequential testing …


Detecting Outlier Genes From High-Dimensional Data: A Fuzzy Approach, Debashis Ghosh Jan 2010

Detecting Outlier Genes From High-Dimensional Data: A Fuzzy Approach, Debashis Ghosh

Debashis Ghosh

A recent nding in cancer research has been the characterization of previously undis- covered chromosomal abnormalities in several types of solid tumors. This was found based on analyses of high-throughput data from gene expression microarrays and motivated the development of so-called `outlier' tests for dierential expression. One statistical issue was the potential discreteness of the test statistics. Using ideas from fuzzy set theory, we develop fuzzy outlier detection algorithms that have links to ideas in multiple comparisons. Two- and K-sample extensions are considered. The methodology is illustrated by application to two microarray studies.


Hierarchical Hidden Markov Model With Application To Joint Analysis Of Chip-Chip And Chip-Seq Data, Hyungwon Choi, Debashis Ghosh, Zhaohui S. Qin Jan 2009

Hierarchical Hidden Markov Model With Application To Joint Analysis Of Chip-Chip And Chip-Seq Data, Hyungwon Choi, Debashis Ghosh, Zhaohui S. Qin

Debashis Ghosh

Motivation: Identication of transcription factor binding sites (TFBS) is a fundamental problem in understanding the mechanism of gene regulation. The ChIP-chip technology has accelerated this eort by providing a simultaneous genome-wide map of TFBS in a high-throughput fashion. Recently, a sequencing-based ChIP-seq has appeared as a promising alternative that can identify targets with an improved sensitivity/specicity in high resolution. However, studies have suggested that distinct experimental platforms can be complementary in TFBS identication. The availability of data obtained from multiple platforms motivates a meta-analysis for improved identication of candidate motifs.

Results: In this work, we propose a hierarchical hidden Markov …


Discrete Nonparametric Algorithms For Outlier Detection With Genomic Data, Debashis Ghosh Jan 2009

Discrete Nonparametric Algorithms For Outlier Detection With Genomic Data, Debashis Ghosh

Debashis Ghosh

In high-throughput studies involving genetic data such as from gene expression microarrays, differential expression analysis between two or more experimental conditions has been a very common analytical task. Much of the resulting literature on multiple comparisons has paid relatively little attention to the choice of test statistic. In this article, we focus on the issue of choice of test statistic based on a special pattern of differential expression. The approach here is based on recasting multiple comparisons procedures for assessing outlying expression values. A major complication is that the resulting p-values are discrete; some theoretical properties of sequential testing procedures …


A Double-Layered Mixture Model For The Joint Analysis Of Dna Copy Number And Gene Expression Data, Debashis Ghosh Jan 2009

A Double-Layered Mixture Model For The Joint Analysis Of Dna Copy Number And Gene Expression Data, Debashis Ghosh

Debashis Ghosh

Copy number aberration is a common form of genomic instability in cancer. Gene expression is closely tied to cytogenetic events by the central dogma of molecular biology, and serves as a mediator of copy number changes in disease phenotypes. Accordingly, it is of interest to develop proper statistical methods for jointly analyzing copy number and gene expression data. This work describes a novel Bayesian inferential approach for a double-layered mixture model (DLMM) which directly models the stochastic nature of copy number data and identifies abnormally expressed genes due to aberrant copy number. Simulation studies were conducted to illustrate the robustness …


Discrete Nonparametric Algorithms For Outlier Detection With Genomic Data, Debashis Ghosh Jan 2009

Discrete Nonparametric Algorithms For Outlier Detection With Genomic Data, Debashis Ghosh

Debashis Ghosh

In high-throughput studies involving genetic data such as from gene expression microarrays, differential expression analysis between two or more experimental conditions has been a very common analytical task. Much of the resulting literature on multiple comparisons has paid relatively little attention to the choice of test statistic. In this article, we focus on the issue of choice of test statistic based on a special pattern of differential expression. The approach here is based on recasting multiple comparisons procedures for assessing outlying expression values. A major complication is that the resulting p-values are discrete; some theoretical properties of sequential testing procedures …