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Advances in genetics. Volume 103 / edited by Dhavendra Kumar. -- Cambridge, MA : Academic Press, 2019. – (58.14 /A244 /v.103) |
Contents
Contributors
Preface
1.
Multi-omics approaches for strategic improvement of stress tolerance in
underutilized crop species: A climate change perspective
1. Introduction
2. Omics approaches to studying NUCS
3. Status of crop improvement programs in
NUCS
4. Integrating omics for strategic
improvement of stress tolerance
5. Concluding remarks
Acknowledgments
References
2.
Understanding human DNA variants affecting pre-mRNA splicing in the NGS era
1. Introduction
2. Pre-mRNA splicing
3. DNA variants affecting pre-mRNA splicing
4. Pre-mRNA splicing alterations and cancer
5. Concluding remarks
Acknowledgments
References
3.
Finding a cure for tuberous sclerosis complex: From genetics through to
targeted drug therapies
1. Introduction
2. Acknowledgments
3. Conflict of interest
References
4.
Population-scale genomics-Enabling precision public health
1. Introduction
2. Tools and resources to enable analysis
3. Precision medicine
4. Pharmacogenomics on population-scale
genomic data
5. Ethnic differences in pharmacogenetics
6. Role of population stratification and
admixture in pharmacogenomic inference
7. Pharmacogenomics in drug discovery and
development
8. Challenges and future directions
9. Conclusions
References
5. CDK13-related
disorder
1. Introduction
2. Phenotype of the CDK13-related disorder
3. Mutational spectrum of CDK13
4. Genotype-phenotype correlations
5. Pathological mechanisms of mutations in
CDK13
6. Differential diagnosis of CDK13-disorder
7. Medical management of affected
individuals
8. Future directions
References
6. The
role of inherited genetic variants in colorectal polyposis syndromes
1. Introduction
2. The colorectal polyposis syndromes
3. Clinical management of patients with
colorectal polyposis
4. "Unexplained" colorectal
polyposis
5. Summary
Acknowledgments
References
Further reading
