Clinical Bioinformatics

In Clinical Bioinformatics, Second Edition, leading experts in the field provide a series of articles focusing on software applications used to translate information into outcomes of clinical relevance. Recent developments in omics, such as increasingly sophisticated analytic platforms allowing changes in diagnostic strategies from the traditional focus on single or small number of analytes to what might be possible when large numbers or all analytes are measured, are now impacting patient care. Covering such topics as gene discovery, gene function (microarrays), DNA sequencing, online approaches and resources, and informatics in clinical practice, this volume concisely yet thoroughly explores this cutting-edge subject. Written in the successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible protocols, and notes on troubleshooting and avoiding known pitfalls.

Authoritative and easily accessible, Clinical Bioinformatics, Second Edition serves as an ideal guide for scientists and health professionals working in genetics and genomics.

From the Phenotype to the Genotype via Bioinformatics.- Production and Analytic Bioinformatics for Next-Generation DNA Sequencing.- Analyzing the Metabolome.- Statistical Perspectives for Genome-Wide Association Studies (GWAS).- Bioinformatics Challenges in Genome-Wide Association Studies (GWAS).- Studying Cancer Genomics through Next-Generation Sequencing and Bioinformatics.- Using Bioinformatics Tools to Study the Role of microRNA in Cancer.- Chromosome Microarrays in Diagnostic Testing: Interpreting the Genomic Data.- Bioinformatics Approach to Understanding Interacting Pathways in Neuropsychiatric Disorders.- Pathogen Genome Bioinformatics.- Setting Up Next-Generation DNA Sequencing in the Medical Laboratory.- Managing Incidental Findings in Exome Sequencing for Research.- Approaches for Classifying DNA Variants Found by Sanger Sequencing in a Medical Genetics Laboratory.- Designing Algorithms for Determining Significance of DNA Missense Changes.- DNA Variant Databases: Current and Future Directions.- Natural Language Processing Systems in Biomedicine: A Unified System Architecture Overview.- Candidate Gene Discovery and Prioritization in Rare Diseases.- Computer Aided Drug Designing.