Human Genome Structure, Function and Clinical Considerations

This book provides a detailed evidence-based overview of the latest developments in how the structure of the human genome is relevant to the health professional. It features comprehensive reviews of genome science including human chromosomal and mitochondrial DNA structure, protein-coding and noncoding genes, and the diverse classes of repeat elements of the human genome. These concepts are then built upon to provide context as to how they functionally relate to differences in phenotypic traits that can be observed in human populations. Guidance is also provided on how this information can be applied by the medical practitioner in day-to-day clinical practice. Human Genome Structure, Function and Clinical Considerations collates the latest developments in genome science and current methods for genome analysis that are relevant for the clinician, researcher and scientist who utilises precision medicine techniques and is an essential resource for any such practitioner.

Auteur
Dr. Haddad is professor of Molecular Biology at the University of São Paulo. Her research employs an interdisciplinary approach to assess gene expression regulation related to human DNA alterations in genetic diseases. She is actively engaged in genetic disorder patient associations in search for better care and prospective novel therapies for patients, and acts as member of international scientific advisory boards.

Contenu
Overview of the Human Genome.- Human Chromosomes.- Methods to study genomic DNA Sequence Variation.- Protein-coding Genes.- Non-coding Gene Families of the Human Genome.- Human Satellite DNA.- DNA Simple Tandem Repeats.- Human Chromosome Telomeres.- Interspersed Transposable Elements.- Copy Number Variation in the Human Genome.- The Human Mitochondrial Genome.- The Human Mitochondrial Genome.