Skip to main content
SpringerLink
Log in

Human Genome Structure, Function and Clinical Considerations

  • Book
  • © 2021

Overview

Editors:
  1. Luciana Amaral Haddad

    1. Department of Genetics and Evolutionary Biology, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  • Details the latest advances in the available clinical applications of the genomic and precision medicine

  • Covers the impact of developments in in the field of human genomics for the medical professional

  • Features chapters with a uniform structure that meets the requirements for delivery of avenues available for evidence-based precision and personalized medicine

This is a preview of subscription content, log in via an institution to check access.

Access this book

Log in via an institution
eBook USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 159.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access

Licence this eBook for your library

Institutional subscriptions

Table of contents (11 chapters)

  1. Front Matter

    Pages i-viii
    Download chapter PDF

  2. An Overview of the Human Genome

    • Sérgio D. J. Pena
    Pages 1-24

  3. Human Chromosomes

    • Bianca Pereira Favilla, Luciana Amaral Haddad, Maria Isabel Melaragno
    Pages 25-58

  4. Methods to Study Genomic DNA Sequence Variation

    • Michel Satya Naslavsky, Marília de Oliveira Scliar
    Pages 59-92

  5. Protein-Coding Genes

    • Luciana Amaral Haddad
    Pages 93-138

  6. Noncoding Gene Families of the Human Genome

    • Ricardo Alberto Chiong Zevallos, Eduardo Moraes Reis
    Pages 139-180

  7. Satellite and Tandem DNA Repeats in the Human Genome

    • Luciana Amaral Haddad
    Pages 181-206

  8. Human Chromosome Telomeres

    • Florencia Barbé-Tuana, Lucas Kich Grun, Vinícius Pierdoná, Beatriz Cristina Dias de Oliveira, Stephany Cacete Paiva, Mark Ewusi Shiburah et al.
    Pages 207-243

  9. To Build or To Break: The Dual Impact of Interspersed Transposable Elements in Cancer

    • Daniel Andrade Moreira, Cristóvão Antunes de Lanna, Jéssica Gonçalves Vieira da Cruz, Mariana Boroni
    Pages 245-273

  10. Copy Number Variation in the Human Genome

    • Elisa Napolitano Ferreira, Caio Robledo D’Angioli Costa Quaio
    Pages 275-300

  11. The Human Mitochondrial DNA

    • Regina Célia Mingroni-Netto
    Pages 301-328

  12. Population Variation of the Human Genome

    • Fabrício R. Santos, Thomaz Pinotti, Ricardo Fujita
    Pages 329-350

  13. Back Matter

    Pages 351-361
    Download chapter PDF
Back to top

Keywords

About this book

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.

Editors and Affiliations

  • Department of Genetics and Evolutionary Biology, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil

    Luciana Amaral Haddad

About the editor

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.

Bibliographic Information

  • Book Title: Human Genome Structure, Function and Clinical Considerations

  • Editors: Luciana Amaral Haddad

  • DOI: https://doi.org/10.1007/978-3-030-73151-9

  • Publisher: Springer Cham

  • eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)

  • Copyright Information: The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2021

  • Hardcover ISBN: 978-3-030-73150-2Published: 08 June 2021

  • Softcover ISBN: 978-3-030-73153-3Published: 09 June 2022

  • eBook ISBN: 978-3-030-73151-9Published: 07 June 2021

  • Edition Number: 1

  • Number of Pages: VIII, 361

  • Number of Illustrations: 5 b/w illustrations, 47 illustrations in colour

  • Topics: Medicine/Public Health, general, Genetics and Genomics, Human Genetics, Molecular Medicine

Publish with us

Policies and ethics

Back to top

Search

Navigation