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19 Cards in this Set

  • Front
  • Back
The study of the whole genome
Genomics
Human Genome Project
started in 1990 offically
international collaboration of hundreds of researchers
Ordered contig sequencing
a) identify overlappping clones
b) contigs: minimal sets of clones encompassing a genomic region
Generates a physical map
Shotgun sequencing
a) randomly sequencing genomic clones
b) assemble sequences using computer programs
Advantageous: random selection, determines gaps between contigs
Minimum tiling path
Overlapping clones that correspond to all genomic sequences
PLinkage maps
recombination spots
map units don't equal physical distance
molecular markers have a higher density than mutations esp. SNPs
Heterozygousity of individuals
Expressed sequence tags
corresponds to a portion of cDNA sequence, exon of gene
Gene landmarks
enhancer element, promoter TATA box, promoter CATbox, translation start, intron splice site, translation stop, poly(A) tail site.
Bioinformatics
Marriage between genetics and biocomputing
Public Genome databases
NCBI:
Ensemble:
UCSC:
Protein databases
Structural: Prosite, PDB, MMDB
Functional: MGI, OMIM
Interactions: BIND
Transciptome vs genome
functional genomics: final result of RNA transcriptionn
Gene technologies for genomics
Southern blot
PCR
FISH
Transcriptomics
Northern blot
RT-PCR
Microarray
glass slide or chip on which many probes have been immobilised
Made up of labeled target sequences: fluorescent tags
cDNA microarrays
GO annotations
1. cellular component: gene product acts as
2. molecular function: jobs of gene product
3. biological process: series of events
Proteomics
Much larger than the genome
1. Alternative splicing
2. RNA editing
3. Posttranslational covalent modification
Biomarkers
involved in cancer detection: proteins
Future genomics
Molecular medicine,
Forensic medicine: DNA ID
Microbial genetics
Risk assessment
Evolution, human migration
Agriculture