Dataset Information

Segmentation and estimation for SNP microarrays: a Bayesian multiple change-point approach.

ABSTRACT: High-density single-nucleotide polymorphism (SNP) microarrays provide a useful tool for the detection of copy number variants (CNVs). The analysis of such large amounts of data is complicated, especially with regard to determining where copy numbers change and their corresponding values. In this article, we propose a Bayesian multiple change-point model (BMCP) for segmentation and estimation of SNP microarray data. Segmentation concerns separating a chromosome into regions of equal copy number differences between the sample of interest and some reference, and involves the detection of locations of copy number difference changes. Estimation concerns determining true copy number for each segment. Our approach not only gives posterior estimates for the parameters of interest, namely locations for copy number difference changes and true copy number estimates, but also useful confidence measures. In addition, our algorithm can segment multiple samples simultaneously, and infer both common and rare CNVs across individuals. Finally, for studies of CNVs in tumors, we incorporate an adjustment factor for signal attenuation due to tumor heterogeneity or normal contamination that can improve copy number estimates.

SUBMITTER: Tai YC

PROVIDER: S-EPMC3766751 | biostudies-literature | 2010 Sep

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Segmentation and estimation for SNP microarrays: a Bayesian multiple change-point approach.

Tai Yu Chuan YC Kvale Mark N MN Witte John S JS

Biometrics 20100901 3

High-density single-nucleotide polymorphism (SNP) microarrays provide a useful tool for the detection of copy number variants (CNVs). The analysis of such large amounts of data is complicated, especially with regard to determining where copy numbers change and their corresponding values. In this article, we propose a Bayesian multiple change-point model (BMCP) for segmentation and estimation of SNP microarray data. Segmentation concerns separating a chromosome into regions of equal copy number d ...[more]

PMID: 19764955

Similar Datasets

Project description:Tumor segmentation in oncological PET is challenging, a major reason being the partial-volume effects (PVEs) that arise due to low system resolution and finite voxel size. The latter results in tissue-fraction effects (TFEs), i.e. voxels contain a mixture of tissue classes. Conventional segmentation methods are typically designed to assign each image voxel as belonging to a certain tissue class. Thus, these methods are inherently limited in modeling TFEs. To address the challenge of accounting for PVEs, and in particular, TFEs, we propose a Bayesian approach to tissue-fraction estimation for oncological PET segmentation. Specifically, this Bayesian approach estimates the posterior mean of the fractional volume that the tumor occupies within each image voxel. The proposed method, implemented using a deep-learning-based technique, was first evaluated using clinically realistic 2D simulation studies with known ground truth, in the context of segmenting the primary tumor in PET images of patients with lung cancer. The evaluation studies demonstrated that the method accurately estimated the tumor-fraction areas and significantly outperformed widely used conventional PET segmentation methods, including a U-net-based method, on the task of segmenting the tumor. In addition, the proposed method was relatively insensitive to PVEs and yielded reliable tumor segmentation for different clinical-scanner configurations. The method was then evaluated using clinical images of patients with stage IIB/III non-small cell lung cancer from ACRIN 6668/RTOG 0235 multi-center clinical trial. Here, the results showed that the proposed method significantly outperformed all other considered methods and yielded accurate tumor segmentation on patient images with Dice similarity coefficient (DSC) of 0.82 (95% CI: 0.78, 0.86). In particular, the method accurately segmented relatively small tumors, yielding a high DSC of 0.77 for the smallest segmented cross-section of 1.30 cm2. Overall, this study demonstrates the efficacy of the proposed method to accurately segment tumors in PET images.

Dataset Information

Segmentation and estimation for SNP microarrays: a Bayesian multiple change-point approach.

Publications

Segmentation and estimation for SNP microarrays: a Bayesian multiple change-point approach.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets