Docenti:

Prof. Davide Gentilini​

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Program

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Lesson 1

• Theoretical basis of second generation sequencing: from DNA to data

• Using the Unix Command Line and the Pipelines

• Files and formats

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Lesson 2

• Sequence preprocessing and alignment

• Recalibration and Indel Realignment

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Lesson 3

• Post realignment statistics and quality control

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Lesson 4

• Coverage analysis: theoretical aspects and arithmetic with genomic coordinates

  • Analysis of the coverage and generation of specific and detailed reports of the regions not covered

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Lesson 5

• Identification of genetic variants use of the main algorithms for variant call

  • Germline Variant Call

  • Somatic Variant Call

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Lesson 6

• Annotation of genetic variants and filtering techniques

• Filtering of post-annotation genetic variants and prioritization techniques

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Lesson 7

• Web resources and databases for NGS data analysis and discussion of interpretations variants in the diagnostic field.

• Quality control and sequencing errors

• Process optimization and database management

• Analysis of clinical exomes and exomes

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