Master's degree in Molecular and Medical Biotechnology

Master's degree in Molecular and Medical Biotechnology

Human genome sequencing and interpretation (2019/2020)

Course code
4S003666
Credits
6
Coordinator
Massimo Delledonne
Other available courses
Academic sector
BIO/18 - GENETICS
Language of instruction
English

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Teaching is organised as follows:
Activity Credits Period Academic staff
teoria 5 I semestre Massimo Delledonne
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




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