Book contents
- Frontmatter
- Contents
- List of Contributors
- Preface
- 1 An Introduction to Next-Generation Biological Platforms
- 2 An Introduction to The Cancer Genome Atlas
- 3 DNA Variant Calling in Targeted Sequencing Data
- 4 Statistical Analysis of Mapped Reads from mRNA-Seq Data
- 5 Model-Based Methods for Transcript Expression-Level Quantification in RNA-Seq
- 6 Bayesian Model-Based Approaches for Solexa Sequencing Data
- 7 Statistical Aspects of ChIP-Seq Analysis
- 8 Bayesian Modeling of ChIP-Seq Data from Transcription Factor to Nucleosome Positioning
- 9 Multivariate Linear Models for GWAS
- 10 Bayesian Model Averaging for Genetic Association Studies
- 11 Whole-Genome Multi-SNP-Phenotype Association Analysis
- 12 Methods for the Analysis of Copy Number Data in Cancer Research
- 13 Bayesian Models for Integrative Genomics
- 14 Bayesian Graphical Models for Integrating Multiplatform Genomics Data
- 15 Genetical Genomics Data: Some Statistical Problems and Solutions
- 16 A Bayesian Framework for Integrating Copy Number and Gene Expression Data
- 17 Application of Bayesian Sparse Factor Analysis Models in Bioinformatics
- 18 Predicting Cancer Subtypes Using Survival-Supervised Latent Dirichlet Allocation Models
- 19 Regularization Techniques for Highly Correlated Gene Expression Data with Unknown Group Structure
- 20 Optimized Cross-Study Analysis of Microarray-Based Predictors
- 21 Functional Enrichment Testing: A Survey of Statistical Methods
- 22 Discover Trend and Progression Underlying High-Dimensional Data
- 23 Bayesian Phylogenetics Adapts to Comprehensive Infectious Disease Sequence Data
- Index
- Plate section
1 - An Introduction to Next-Generation Biological Platforms
Published online by Cambridge University Press: 05 June 2013
- Frontmatter
- Contents
- List of Contributors
- Preface
- 1 An Introduction to Next-Generation Biological Platforms
- 2 An Introduction to The Cancer Genome Atlas
- 3 DNA Variant Calling in Targeted Sequencing Data
- 4 Statistical Analysis of Mapped Reads from mRNA-Seq Data
- 5 Model-Based Methods for Transcript Expression-Level Quantification in RNA-Seq
- 6 Bayesian Model-Based Approaches for Solexa Sequencing Data
- 7 Statistical Aspects of ChIP-Seq Analysis
- 8 Bayesian Modeling of ChIP-Seq Data from Transcription Factor to Nucleosome Positioning
- 9 Multivariate Linear Models for GWAS
- 10 Bayesian Model Averaging for Genetic Association Studies
- 11 Whole-Genome Multi-SNP-Phenotype Association Analysis
- 12 Methods for the Analysis of Copy Number Data in Cancer Research
- 13 Bayesian Models for Integrative Genomics
- 14 Bayesian Graphical Models for Integrating Multiplatform Genomics Data
- 15 Genetical Genomics Data: Some Statistical Problems and Solutions
- 16 A Bayesian Framework for Integrating Copy Number and Gene Expression Data
- 17 Application of Bayesian Sparse Factor Analysis Models in Bioinformatics
- 18 Predicting Cancer Subtypes Using Survival-Supervised Latent Dirichlet Allocation Models
- 19 Regularization Techniques for Highly Correlated Gene Expression Data with Unknown Group Structure
- 20 Optimized Cross-Study Analysis of Microarray-Based Predictors
- 21 Functional Enrichment Testing: A Survey of Statistical Methods
- 22 Discover Trend and Progression Underlying High-Dimensional Data
- 23 Bayesian Phylogenetics Adapts to Comprehensive Infectious Disease Sequence Data
- Index
- Plate section
Summary
Introduction
When Sanger and Coulson first described a reliable, efficient method for DNA sequencing in 1975 (Sanger and Coulson, 1975), they made possible the full sequencing of both genes and entire genomes. Although the method was resource-intensive, many institutions invested in the necessary equipment, and Sanger sequencing remained the standard for the next 30 years.
Refinement of the process increased read lengths from around 25 to almost 750 base pairs (Schadt et al., 2010, fig. 1). Although this greatly increased efficiency and reliability, the Sanger method still required not only large equipment but also significant human investment, as the process requires the work of several people. This prompted researchers and companies such as Applied Biosystems to seek improved sequencing techniques and instruments. Starting in the late 2000s, new instruments came on the market that, although they actually decreased read length, lessened run time and could be operated more easily with fewer human resources (Schadt et al., 2010).
Despite discoveries that have illuminated new therapeutic targets, clarified the role of specific mutations in clinical response, and yielded new methods for diagnosis and predicting prognosis (Chin et al., 2011), the initial promise of genomic data has largely remained unfulfilled so far. The difficulties are numerous. The functional consequences of individual mutations are not always clear. In fact, it is often logistically challenging to determine which discovered mutations make a critical contribution to disease and which are due merely to genetic instability and confer little functional effect.
- Type
- Chapter
- Information
- Advances in Statistical BioinformaticsModels and Integrative Inference for High-Throughput Data, pp. 1 - 30Publisher: Cambridge University PressPrint publication year: 2013