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.
CITATION STYLE
Antonarakis, S. E. (2010). Human genome sequence and variation. In Vogel and Motulsky’s Human Genetics: Problems and Approaches (Fourth Edition) (pp. 31–53). Springer-Verlag Berlin Heidelberg. https://doi.org/10.1007/978-3-540-37654-5_3
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