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English
Academic Press Inc
31 July 2019
Cellular and Animal Models in Human Genomics Research provides an indispensable resource for applying comparative genomics in the annotation of disease-gene associated variants that are identified by human genomic sequencing. The book presents a thorough overview of effective protocols for the use of cellular and animal modeling methods to turn lists of plausible genes into causative biomarkers. With chapters written by international experts, the book first addresses the fundamental aspects of using cellular and animal models in genetic and genomic studies, including in-depth examples of specific models and their utility, i.e., yeast, worms, flies, fish, mice and large animals.

Protocols for properly conducting model studies, genomic technology, modeling candidate genes vs. genetic variants, integrative modeling, utilizing induced pluripotent stem cells, and employing CRISPR-Cas9 are also discussed in-depth.
Volume editor:   , , , , , , , ,
Imprint:   Academic Press Inc
Country of Publication:   United States
Dimensions:   Height: 235mm,  Width: 191mm, 
ISBN:   9780128165737
ISBN 10:   0128165731
Series:   Translational and Applied Genomics
Pages:   312
Publication Date:  
Audience:   Professional and scholarly ,  Undergraduate
Format:   Paperback
Publisher's Status:   Active
1. Introduction to human genetics 2. Disease in a dish: Cellular models to understand human conditions 3. Tiny models to answer big questions: The worm and the yeast as tools in human genetics research 4. Understanding human genetic disease with the fly 5. Studying human genetic variation in zebrafish 6. The mouse, a key model organism for biomedical research 7. Crisper/Cas technology 8. Integrative modeling and novel technologies in human genomics 9. Models to understand human genomics, final considerations

Katherina Walz, Ph.D., Director for the Division for Models of Human Disease at the John P. Hussman Institute for Human Genomics, is a biologist interested in the molecular basis of human genetic conditions, with special emphasis in those that are related to brain function and altered behavioral outcomes. Her research is focused in the validation of the genetic cause, the definition of the phenotypic outcomes, and the elucidation of the molecular and physiological pathways related to human diseases. Dr. Walz is also an Research Associate Professor in the Dr. John T. Macdonald Foundation Department of Human Genetics, at the University of Miami Health System, University of Miami, Florida. Juan Young, Ph.D., is an Associate Professor in the Dr. John T. Macdonald Foundation Department of Human Genetics and Co-Director of the Center for Molecular Genetics at the John P. Hussman Institute for Human Genomics, University of Miami Health System, University of Miami, Florida. Young is a neurobiologist interested in identifying epigenetic signatures of human genetic diseases and in establishing animal models of neurological diseases. He has a longstanding interest in neurodevelopmental disorders in general and in understanding the pathogenesis of Rett Syndrome. His work includes the identification of RNA-related functions of MeCP2, mutated in Rett Syndrome and the characterization of cellular and mouse models for this disease.

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