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
