Teaching is organised as follows: | |||
Activity | Credits | Period | Academic staff |
Modulo 1 | 4 | I semestre |
Massimo Delledonne
|
Modulo 2 | 2 | I semestre |
Massimo Delledonne
|
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.
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.
written, open questions
Reference books | ||||||
Activity | Author | Title | Publisher | Year | ISBN | Note |
Modulo 1 | Kulkarni and Pfeifer | Clinical Genomics (Edizione 1) | elsevier | 2015 | 978-0-12-404748-8 | |
Modulo 1 | Brown | Genomes 4 (Edizione 4) | Taylor & Francis | 2017 | 978-0-8153-4508-4 |
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Verona University
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