THE HUMAN GENOME
The human genome sequencing consortium project
• CG content and CpG islands
• Repetitive sequences in the human genome
• Segmental duplications
• Gene content
The human genome sequencing project by Celera
• Shot gun sequencing and hybrid assembly
• Gene prediction and annotation
• SNPs in the human genome
Epigenetics and epigenomics
• Chromatine modification
• DNA methylation
• miRNA
The ENCODE project
• Methods and set of materials
• Transcribed and protein-coding regions (GENCODE)
• Protein bound regions
• DNase I hypersensitive sites and footprints
• Regions of histone modifications
• DNA methylations
• Chromosome interacting regions
• ENCODE data integration with known genomic features
• ENCODE data integration independent of genomic landmarks: Enhancers
CLINICAL GENOMICS
Clinical Genome Sequencing
• Overview of Technical Aspects and Chemistries of Next Generation Sequencing
• Targeted Capture Methods for exome and gene panels
• RNA Sequencing and Methylome Analysis
Base Calling, Read Mapping and Coverage Analysis
Clinical Genome Analysis
• Detection of Single Nucleotide Variant
• Detection of Insertions and Deletions (Indels)
• Detection of Translocations
• Detecion of Copy Number Variants
Clinical Genome Interpretation
• Clinical Genomics for Constitutional Diseases
• Clinical Genomics for Somatic Diseases (Cancer)
• Reference Databases for Disease Associations
• Reporting of Clinical Genomics Test Results
written, open questions
