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.

1. From the Phenotype to the Genotype via Bioinformatics

Cali E. Willet and Claire M. Wade

2. Production and Analytic Bioinformatics for Next-Generation DNA Sequencing

Richard James Nigel Allcock

3. Analyzing the Metabolome

Francis G. Bowling and Mervyn Thomas

4. Statistical Perspectives for Genome-Wide Association Studies (GWAS)

Jennifer H. Barrett, John C. Taylor and Mark M. Iles

5. Bioinformatics Challenges in Genome-Wide Association Studies (GWAS)

Rishika De, William S. Bush, and Jason H. Moore

6. Studying Cancer Genomics through Next-Generation Sequencing and Bioinformatics

Maria A. Doyle, Jason Li, Ken Doig, Andrew Fellowes, and Stephen Q. Wong

7. Using Bioinformatics Tools to Study the Role of microRNA in Cancer

Fabio Passetti, Natasha Jorge, and Alan Durham

8. Chromosome Microarrays in Diagnostic Testing: Interpreting the Genomic Data

Greg B. Peters and Mark D. Pertile

9. Bioinformatics Approach to Understanding Interacting Pathways in Neuropsychiatric Disorders

Ali Alawieh, Zahraa Sabra, Amaly Nokkari, Atlal El-Assaad, Stefania Mondello, Fadi Zaraket, Bilal Fadlallah, and Firas H. Kobeissy

10. Pathogen Genome Bioinformatics

Vitali Sintchenko and Michael P.V. Roper

11. Setting Up Next-Generation DNA Sequencing in the Medical Laboratory

Bing Yu

12. Managing Incidental Findings in Exome Sequencing for Research

Marcus J. Hinchcliffe

13. Approaches for Classifying DNA Variants Found by Sanger Sequencing in a Medical Genetics Laboratory

Pak Leng Cheong and Melody Caramins

14. Designing Algorithms for Determining Significance of DNA Missense Changes

Sivakumar Gowrisankar and Matthew S. Lebo

15. DNA Variant Databases: Current and Future Directions

John-Paul Plazzer and Finlay Macrae

16. Natural Language Processing Systems in Biomedicine: A Unified System Architecture Overview

Son Doan, Mike Conway, Tu Minh Phuong, and Lucila Ohno-Machado

17. Candidate Gene Discovery and Prioritization in Rare Diseases

Anil G. Jegga

18. Computer Aided Drug Designing

Mohini Gore and Neetin S. Desai