Medical Genomics
Table of Contents
HC 1: Molecular biology .................................................................................................... 1
HC 2: Genome structure, sequencing, and PCR .................................................................. 6
HC 3: Genome mapping, sequencing, and next genome sequencing ................................ 11
HC 4: Databases and analysis tools and comparative genomics ....................................... 15
HC 5: Comparative genomics and forces that shape genomes.......................................... 21
HC 6: Model organisms in genomic research ................................................................... 29
HC 7: Genome Manipulation Techniques ......................................................................... 37
CRISPR/ Cas 9 ........................................................................................................................ 38
Homologous gene targeting.................................................................................................... 42
Transgenesis .......................................................................................................................... 43
siRNA and RNA knockdown .................................................................................................... 43
HC 8: genome wide CRISPR- screening ............................................................................ 44
HC 9: Mendelian genetics ............................................................................................... 48
HC 9: Linkage analysis .................................................................................................... 52
HC 10: Prenatal screening ............................................................................................... 54
HC 10: Complex trait genetics ......................................................................................... 59
HC 11: Proteomics, transcriptomics, and ethics................................................................ 61
Transcriptomics...................................................................................................................... 61
Proteomics ............................................................................................................................ 65
HC 12: Genome-wide association studies ........................................................................ 69
Hc 12: beyond GWAS ...................................................................................................... 72
HC 13: PRS debate and Ethics .......................................................................................... 73
HC 14: Programming ...................................................................................................... 76
HC 1: Molecular biology
Genomics: study of entire genome
- Implications for life sciences
- Not limited to human genome
Applications in medicine and health care:
, - Whole genome sequencing
- Genetic variants
- Human disease gene identification
o Mendelian traits
o Complex traits
- Making disease models using model organisms
- Gene therapy and stem cell therapy
DNA:
- A = T and C =-G
o Waterstofbruggen
o Antiparallel
- Sugar and phosphate groups
- Phosphodiester bond
- 3’ end → OH group
- 5’ end → phosphate
o Grows on 5’ end
- DNA → transcription → RNA → translation → protein
Transcription:
,Prokaryoten vs. eukaryoten
- Pro: operon, polycistronic mRNA, little processing, DNA in cytoplasm
- Eu: single genes, monocistronic mRNA, heavy RNA processing, DNA in nucleus
o Alternative splicing
, Extra O bij RNA zorgt ervoor dat het minder stabiel is.
Translation:
- mRNA celkern uit getransporteerd
- ribosoom leest met tRNA het mRNA en vormt proteine door aminozuren te
verbinden
Table of Contents
HC 1: Molecular biology .................................................................................................... 1
HC 2: Genome structure, sequencing, and PCR .................................................................. 6
HC 3: Genome mapping, sequencing, and next genome sequencing ................................ 11
HC 4: Databases and analysis tools and comparative genomics ....................................... 15
HC 5: Comparative genomics and forces that shape genomes.......................................... 21
HC 6: Model organisms in genomic research ................................................................... 29
HC 7: Genome Manipulation Techniques ......................................................................... 37
CRISPR/ Cas 9 ........................................................................................................................ 38
Homologous gene targeting.................................................................................................... 42
Transgenesis .......................................................................................................................... 43
siRNA and RNA knockdown .................................................................................................... 43
HC 8: genome wide CRISPR- screening ............................................................................ 44
HC 9: Mendelian genetics ............................................................................................... 48
HC 9: Linkage analysis .................................................................................................... 52
HC 10: Prenatal screening ............................................................................................... 54
HC 10: Complex trait genetics ......................................................................................... 59
HC 11: Proteomics, transcriptomics, and ethics................................................................ 61
Transcriptomics...................................................................................................................... 61
Proteomics ............................................................................................................................ 65
HC 12: Genome-wide association studies ........................................................................ 69
Hc 12: beyond GWAS ...................................................................................................... 72
HC 13: PRS debate and Ethics .......................................................................................... 73
HC 14: Programming ...................................................................................................... 76
HC 1: Molecular biology
Genomics: study of entire genome
- Implications for life sciences
- Not limited to human genome
Applications in medicine and health care:
, - Whole genome sequencing
- Genetic variants
- Human disease gene identification
o Mendelian traits
o Complex traits
- Making disease models using model organisms
- Gene therapy and stem cell therapy
DNA:
- A = T and C =-G
o Waterstofbruggen
o Antiparallel
- Sugar and phosphate groups
- Phosphodiester bond
- 3’ end → OH group
- 5’ end → phosphate
o Grows on 5’ end
- DNA → transcription → RNA → translation → protein
Transcription:
,Prokaryoten vs. eukaryoten
- Pro: operon, polycistronic mRNA, little processing, DNA in cytoplasm
- Eu: single genes, monocistronic mRNA, heavy RNA processing, DNA in nucleus
o Alternative splicing
, Extra O bij RNA zorgt ervoor dat het minder stabiel is.
Translation:
- mRNA celkern uit getransporteerd
- ribosoom leest met tRNA het mRNA en vormt proteine door aminozuren te
verbinden
