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| Preface | v | |
| Contributors | ix | |
| 1 | From the Phenotype to the Genotype via Bioinformatics | 1 |
| Call E. Willet and Claire M. Wade | ||
| 2 Production and Analytic Bioinformatics for Next-Generation | ||
| DNA Sequencing | 17 | |
| Richard James Nigel Allcock | ||
| 3 | Analyzing the Metabolome | 31 |
| Francis G. Bowling and Mervyn Thomas | ||
| 4 | Statistical Perspectives for Genome-Wide Association Studies (GWAS) | 47 |
| Jennifer H. Barrett, John C. Taylor\ and Mark M. Iles | ||
| 5 | Bioinformatics Challenges in Genome-Wide Association Studies (GWAS) | 63 |
| Rishika De, William S. Bush, and Jason H. Moore | ||
| 6 Studying Cancer Genomics Through Next-Generation | ||
| DNA Sequencing and Bioinformatics | 83 | |
| 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 | 99 |
| Fabio Passetti, Natasha Andressa Nogueira Jorge, and Alan Durham | ||
| 8 Chromosome Microarrays in Diagnostic Testing: | ||
| Interpreting the Genomic Data | 117 | |
| Greg B. Peters and Mark D. Pertile | ||
| 9 Bioinformatics Approach to Understanding Interacting Pathways | ||
| in Neuropsychiatrie Disorders | 157 | |
| Ali Alawieh, Zahraa Sabra, Amaly Nokkari, Atlal Fl-Assaad, | ||
| Stefania Mondello, Fadi Zaraket, Bilal Fadlallah, | ||
| and Firas H. Kobeissy | ||
| 10 | Pathogen Genome Bioinformatics | 173 |
| Vitali Sintchenko and Michael P. V. Roper | ||
| 11 | Setting Up Next-Generation Sequencing in the Medical Laboratory | 195 |
| Bing Tu | ||
| 12 | Managing Incidental Findings in Exome Sequencing for Research | 207 |
| Marcus /. Hinchcliffe | ||
| 13 Approaches for Classifying DNA Variants Found by Sanger | ||
| Sequencing in a Medical Genetics Laboratory | 227 | |
| Pak Leng Cheong and Melody Caramins | ||
| 14 Designing Algorithms for Determining Significance | ||
| of DNA Missense Changes | 251 | |
| Sivakumar Gowrisankar and Matthew S. Lebo | ||
| 15 | DNA Variant Databases: Current State and Future Directions | 263 |
| John-Paul Plazzer and Finlay Macrae | ||
| 16 Natural Language Processing in Biomedicine: | ||
| A Unified System Architecture Overview | 275 | |
| Son Do an, Mike Conway, Tu Minh Phuonjj, and Lucila Ohno-Machado | ||
| 17 | Candidate Gene Discovery and Prioritization in Rare Diseases | 295 |
| Anil G. Jefjffa | ||
| 18 | Computer-Aided Drug Designing | 313 |
| Mohini Gore and Neetin S. Desai | ||
| Index | 323 | |
