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Human Genome Sequence and Variation

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Vogel and Motulsky's Human Genetics

Abstract

The knowledge of the content of the individual human genomes has become a sine qua non for the understanding of the relationship between geno-typic and phenotypic variability. The genome sequence and the ongoing functional annotation require both comparative genome analysis among different species and experimental validation. Extensive common and rare genomic variability exists that strongly influences genome function among individuals, partially determining disease susceptibility.

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Authors
  1. Stylianos E. Antonarakis
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Editors and Affiliations

  1. Institute of Human Genetics, Medical University of Graz, Harrachgasse 21/8, Graz, 8010, Austria

    Michael R. Speicher

  2. Departments of Medicine (Division of Medical Genetics) and Genome Sciences, University of Washington School of Medicine, 1705 N.E. Pacific St., 355065, Seattle, WA, 98195-5065, USA

    Arno G. Motulsky (Professor Emeritus) (Professor Emeritus)

  3. Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, 1 rue Michel-Servet, Geneva, 1211, Switzerland

    Stylianos E. Antonarakis

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Antonarakis, S.E. (2010). Human Genome Sequence and Variation. In: Speicher, M.R., Motulsky, A.G., Antonarakis, S.E. (eds) Vogel and Motulsky's Human Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-37654-5_3

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