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program [2012/12/12 10:34] mbleda |
program [2017/05/24 14:25] (current) |
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+ | ====== Day 1 ====== | ||
+ | ===== 11:00 – 11:30 Course presentation. ===== | ||
+ | *Joaquin Dopazo. | ||
+ | |||
+ | ===== 11:30 – 12:00 Introduction to Linux command line. ===== | ||
+ | *Pablo Escobar | ||
+ | {{:intro-linux-mda12.pdf|}} | ||
+ | |||
+ | ===== 12:00 – 13:00 Introduction to NGS technologies. ===== | ||
+ | *Javier Santoyo | ||
+ | {{:ngs_introduction_2012_12_10_valencia_mda12.pdf|NGS introduction slides}} | ||
+ | |||
+ | ===== 13:00 – 13:30 Computing infrastructure for NGS analyses. ===== | ||
+ | *Pablo Escobar. | ||
+ | {{:presentacion-it-ngs-valencia-mda12v2.pdf|}} | ||
+ | |||
+ | =====13:30 – 15:00 Lunch break ===== | ||
+ | //Will be held in the cafeteria of the CIPF.// | ||
+ | |||
+ | ===== 15:00 – 16:30 NGS data preprocessing concepts. ===== | ||
+ | *Jose Carbonell. | ||
+ | |||
+ | Handling sequence files. | ||
+ | |||
+ | Fasta and fastq file formats overview. | ||
+ | |||
+ | Encoding quality metrics. | ||
+ | |||
+ | Quality control tools. | ||
+ | |||
+ | Bias detection. | ||
+ | |||
+ | Sequence filtering. | ||
+ | |||
+ | {{:sequence_preprocessing.pdf|}} | ||
+ | |||
+ | |||
+ | ===== 16:30 – 17:00 Coffee break ===== | ||
+ | //Will be held in the cafeteria of the CIPF.// | ||
+ | |||
+ | |||
+ | ===== 17:00 – 18:30 NGS data preprocessing practical session. ===== | ||
+ | *Jose Carbonell and Francisco Garcia. | ||
+ | |||
+ | Hands on session with FastQC and FastX-Toolkit programs. | ||
+ | |||
+ | {{::intro-linux-pescobar.pdf|}} | ||
+ | |||
+ | {{:sesion_practica_sequencing.pdf|}} | ||
+ | |||
+ | {{:sesion_practica_sequencing.odt|}} | ||
+ | |||
+ | |||
+ | ===== 21:00 GALA DINNER ===== | ||
+ | |||
+ | * See details here: {{:course_dinner.pdf|}} | ||
+ | |||
+ | |||
+ | |||
+ | ====== Day 2 ====== | ||
+ | |||
+ | =====10:00 – 11:30 Sequence alignment concepts. ===== | ||
+ | *Enrique Vidal. | ||
+ | |||
+ | Reference genome as a concept. | ||
+ | |||
+ | NGS alignment programs and algorithms. | ||
+ | |||
+ | SAM/BAM and BED file formats overview. | ||
+ | |||
+ | Mapped reads visualization. | ||
+ | |||
+ | Quality control of the mapping. | ||
+ | |||
+ | Local realignment. | ||
+ | |||
+ | Computational needs. | ||
+ | |||
+ | {{:mda12v2-alignment.pdf|}} | ||
+ | |||
+ | =====11:30 – 12:00 Coffee break ===== | ||
+ | //Will be held in the cafeteria of the CIPF.// | ||
+ | |||
+ | |||
+ | ===== 12:00 – 13:30 Sequence alignment practical session. ===== | ||
+ | *Enrique Vidal and David Montaner. | ||
+ | |||
+ | Hands on session with alignment programs: bowtie, bwa and bfast. | ||
+ | |||
+ | Overview of quality control and visualization tools: bamQC, GATK and IGV. | ||
+ | |||
+ | Data handling with SAMtools. | ||
+ | |||
+ | {{::mda-alignment_hands_on.pdf|}} | ||
+ | |||
+ | [[align_handson | Alignment hands on ]] | ||
+ | |||
+ | |||
+ | ===== 13:30 – 15:00 Lunch break ===== | ||
+ | //Will be held in the cafeteria of the CIPF.// | ||
+ | |||
+ | |||
+ | ===== 15:00 – 16:30 Variant calling in NGS experiments; concepts. ===== | ||
+ | *Jorge Jimenez. | ||
+ | |||
+ | Variant types: SNPs and InDels. | ||
+ | |||
+ | Calling procedures and algorithms. | ||
+ | |||
+ | VCF file formats overview. | ||
+ | |||
+ | Introduction to the programs GATK, Annovar and Variant. | ||
+ | |||
+ | Variant filtering. | ||
+ | |||
+ | The problem of the missing data. | ||
+ | |||
+ | Variant annotation. | ||
+ | |||
+ | Data bases and data repositories: dbSNP and the 1000 genomes project. | ||
+ | |||
+ | {{:variant_calling.pdf|}} | ||
+ | |||
+ | |||
+ | ===== 16:30 – 17:00 Coffee Break ===== | ||
+ | |||
+ | |||
+ | ===== 17:00 – 18:30 Variant calling practical session. ===== | ||
+ | *Jorge Jimenez and Martina Marba. | ||
+ | |||
+ | Hands on with GATK, Annovar and IGV. | ||
+ | |||
+ | {{:variant_calling_practical.pdf|}} | ||
+ | |||
+ | [[calling_handson | variant calling hands on ]] | ||
+ | |||
+ | |||
+ | ====== Day 3 ====== | ||
+ | |||
+ | |||
+ | ===== 9:30 – 11:30 Results interpretation. ===== | ||
+ | *Jorge Jimenez and Enrique Vidal | ||
+ | |||
+ | A general view on how to interpret BIER analysis pipeline and results. Some remarks on experiment design. | ||
+ | |||
+ | {{:report.pdf|}} | ||
+ | |||
+ | {{::mda-_remarks.pdf|}} | ||
+ | |||
+ | |||
+ | ===== 11:30 – 12:00 Coffee break ===== | ||
+ | //Will be held in the cafeteria of the CIPF.// | ||
+ | |||
+ | |||
+ | ===== 12:00 – 14:00 Some CIPF tools for visualization, variant characterization and pathway analysis. ===== | ||
+ | *Patricia Sebastian and Marta Bleda | ||
+ | |||
+ | Variant, CellBase, Genome Maps and Pathway analysis. | ||
+ | |||
+ | {{:pathwayanalysis.pdf|}} | ||
+ | |||
+ | {{::cipf_tools_marta_bleda.pdf|Some_CIPF_tools_presentation.pdf}}\\ | ||
+ | {{::example_files.zip|example files}} |