Advances in Genetics, Volume 103, provides the latest information on the rapidly evolving field of genetics, presenting new medical breakthroughs that are occurring as a result of advances in our knowledge of the topic. The book continually publishes important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines, critically analyzing future directions.
- Critically analyzes future directions for the study of clinical genetics
- Written and edited by recognized leaders in the field
- Presents new medical breakthroughs that are occurring as a result of advances in our knowledge of genetics
| Contributors |
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vii | |
| Preface |
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ix | |
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1 Multi-omics approaches for strategic improvement of stress tolerance in underutilized crop species: A climate change perspective |
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1 | (38) |
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Mehanathan Muthamilarasan |
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2 | (5) |
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2 Omics approaches to studying NUCS |
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7 | (11) |
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3 Status of crop improvement programs in NUCS |
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18 | (7) |
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4 Integrating omics for strategic improvement of stress tolerance |
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25 | (3) |
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28 | (11) |
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28 | (1) |
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28 | (11) |
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2 Understanding human DNA variants affecting pre-mRNA splicing in the NGS era |
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39 | (52) |
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Luiz Gustavo Dufner-Almeida |
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Ramon Torreglosa do Carmo |
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40 | (1) |
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40 | (11) |
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3 DNA variants affecting pre-mRNA splicing |
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51 | (19) |
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4 Pre-mRNA splicing alterations and cancer |
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70 | (6) |
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76 | (15) |
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77 | (1) |
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77 | (14) |
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3 Finding a cure for tuberous sclerosis complex: From genetics through to targeted drug therapies |
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91 | (28) |
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91 | (28) |
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115 | (1) |
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115 | (1) |
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115 | (4) |
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4 Population-scale genomics---Enabling precision public health |
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119 | (44) |
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120 | (9) |
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2 Tools and resources to enable analysis |
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129 | (2) |
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131 | (2) |
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4 Pharmacogenomics on population-scale genomic data |
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133 | (5) |
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5 Ethnic differences in pharmacogenetics |
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138 | (6) |
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6 Role of population stratification and admixture in pharmacogenomic inference |
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144 | (1) |
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7 Pharmacogenomics in drug discovery and development |
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145 | (1) |
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8 Challenges and future directions |
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145 | (5) |
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150 | (13) |
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150 | (13) |
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163 | (20) |
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164 | (7) |
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2 Phenotype of the CD/03-related disorder |
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171 | (3) |
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3 Mutational spectrum of CDK13 |
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174 | (1) |
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4 Genotype-phenotype correlations |
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174 | (1) |
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5 Pathological mechanisms of mutations in CDK13 |
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175 | (2) |
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6 Differential diagnosis of CD/03-disorder |
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177 | (1) |
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7 Medical management of affected individuals |
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178 | (1) |
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179 | (4) |
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180 | (3) |
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6 The role of inherited genetic variants in colorectal polyposis syndromes |
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183 | |
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184 | (6) |
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2 The colorectal polyposis syndromes |
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190 | (12) |
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3 Clinical management of patients with colorectal polyposis |
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202 | (1) |
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4 "Unexplained" colorectal polyposis |
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203 | (5) |
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209 | (1) |
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209 | (8) |
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217 | |
Professor Kumar has considerable previous experience in writing and editing books and journals related to genetics and genomics. His books include Genomics and Clinical Medicine and Genomics and Health in the Developing World. He founded and leads the new open access journal Applied and Translational Genomics, published by Elsevier. He has published 40 articles in the journals literature. Professor Dhavendra Kumar is a Visiting Professor, Genomic Policy Unit, Faculty of Life Sciences and Education, The University of South Wales and Consultant in Clinical Genetics at the University Hospital of Wales, Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom. He is one of the Consultants for the All Wales Medical Genetics Service and the lead Clinician for Clinical Cardiovascular Genetics. After qualifying in Medicine from the King Georges Medical College, University of Lucknow, India, he completed postgraduate training in Pediatrics with an MD. Since 1980 he has pursued a career in Medical Genetics in the UK. In 1990 he became a Diplomate of the American Board of Medical Genetics. He is a Fellow of the American College of Medical Genetics (FACMG) and as well as Royal Colleges of Physicians (FRCP-London and FRCP-Ireland) and Pediatrics and Child Health (FRCPCH-UK).
In 2015, he was conferred with the higher degree of DSc by his Alma Mater, King Georges Medical University, Lucknow (UP, India) based on his life-time contributions and achievements to genetic and genomic applications in medicine and health.
