Human genome sequencing and interpretation (2019/2020)

Course code
4S003666
Credits
6
Coordinator
Massimo Delledonne
Other available courses
Other available courses
    Academic sector
    BIO/18 - GENETICS
    Language of instruction
    English
    Teaching is organised as follows:
    Activity Credits Period Academic staff Timetable
    teoria 5 I semestre Massimo Delledonne

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    esercitazioni 1 I semestre Massimo Delledonne

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    Learning outcomes

    Scope of the course is to provide the most important concepts of clinical genomics, describing the structure and the function of the human genome as well as the most advanced approaches for its clinical interpretation A key point of the course is the detailed description of the human genome sequencing and annotation approaches carried out by the international public consortium, and by the private (Celera) initiative. The reference genome is indeed a fundamental component of nowadays human resequencing in precision medicine, and describes many key points about the structure and the function of the human genome. Then, the course will focus on the technologies of next generation sequencing and their use in detecting single nucleotide variants as well as large genomic structural variations At the completion of the course the students will be able to properly analyze and interpret a whole human genome.

    Syllabus

    Scope of the course is to provide the most important concepts of clinical genomics, describing the structure and the function of the human genome as well as the most advanced approaches for its clinical interpretation

    A key point of the course is the detailed description of the human genome sequencing and annotation approaches carried out by the international public consortium, and by the private (Celera) initiative. The reference genome is indeed a fundamental component of nowadays human resequencing in precision medicine, and describes many key points about the structure and the function of the human genome.

    Then, the course will focus on the technologies of next generation sequencing and their use in detecting single nucleotide variants as well as large genomic structural variations


    At the completion of the course the students will be able to properly analyze and interpret a whole human genome.

    Assessment methods and criteria

    written

    Reference books
    Activity Author Title Publisher Year ISBN Note
    teoria KULKARNI & PFEIFER CLINICAL GENOMICS (Edizione 1) Elsevier 2015 978-0-12-404748-8
    teoria Brown Genomes 4 (Edizione 4) Taylor & Francis 2017 978-0-8153-4508-4