Ateneo - UPO

Review of the basics of genetics and genomics. Genome structure, DNA replication, flow of genetic information.
DNA polymorphisms and mutations,
PCR and sequencing techniques: Sanger and Next Generation Sequencing.
Applications of Next Generation sequencing: whole exome sequencing, whole genome sequencing and panel analysis (target resequencing).
Analysis pipeline of a genomic sequencing run: alignment, variant calling, annotation.
Genotyping techniques for known DNA polymorphisms. Genotyping platforms.
Epigenetics and methylation analysis

Tom Strachan, Andrew P Read. Human Molecular Genetics. Ed. ISBN 2019

The aim of the course is to provide the student with the instruments to understand the molecular basis of the human genetic diseases and to understand the concept of genetic counselling to the family

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Frontal lessons plus student seminars

Students with physical disabilities, Learning Disabilities or Special Education Needs can request specific services and tools via the Staff Sviluppo e Coordinamento Carriere e Servizi alle Studentesse e agli Studenti, consulting the University webpage: https://www.uniupo.it/en/services/services- students-physical-or-learning-disabilities Students with disabilities, learning disabilities or special education needs, once they have contacted the University Staff, can refer to the tutor in charge of the course to define the examination modalities, concerning academic aspects.

Oral test.

Review of the basics of genetics and genomics. Genome structure, DNA replication, flow of genetic information.
DNA polymorphisms and mutations,
PCR and sequencing techniques: Sanger and Next Generation Sequencing.
Applications of Next Generation sequencing: whole exome sequencing, whole genome sequencing and panel analysis (target resequencing).
Analysis pipeline of a genomic sequencing run: alignment, variant calling, annotation.
Genotyping techniques for known DNA polymorphisms. Genotyping platforms.
Epigenetics and methylation analysis

The aim of the course is to provide the student with the instruments to understand the molecular basis of the human genetic diseases and to understand the concept of genetic counselling to the family