What Is Genomics?. Genomics is the study of how the entire genome of a species functions as a unit and evolves over time. It is the study of life’s blueprint, life’s diversity, and life’s history. Bioinformatics: Analyses the information content of genomes.
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Genomics is the study of how the entire genome of a species functions as a unit and evolves over time.
It is the study of life’s blueprint, life’s diversity, and life’s history.
Bioinformatics:Analyses the information content of genomes.
Comparative Genomics: Compares genome sequences with each other to infer evolutionary relationships and mechanisms of evolution.
Functional Genomics: Probes how genomes function, as a whole, to give rise to organisms.
Ecological Genomics: Understands how genomes, and the organisms they encode, fill specific environmental niches.
730 in progress
Sanger v1, continued
Sanger v2 !!
Fred Sanger, SECOND Nobel Prize
in 1980 (Chemistry; his first was in
1958 for methods for determining
amino acid sequences in proteins).
Made easily robotfriendly.
High throughput DNA sequencing has
allowed the sequencing of whole
This has driven the Genomics revolution.
Pyrosequencing (454, Roche)
Sheared and ssDNA
Polony: clonal amplification
Polony + enzyme beads
First of the ‘parallel’ sequencing platforms.
400K reads X 400 bases = 16-20 Mb in 4 hrs!
So, 125 Mb is only 6 runs for 1X coverage!
Sequence by synthesis – one base at a time
Each base has a different color
Each base has a reversible terminator
Single molecule array
5 million clusters / channel; 8 channels / flow cell
= 40 million reads times ~35 cycles (bases)
= 120 billion bases in 3 days (1.2Gb)
Over 35% of genes in ANY organism (including Human)
have no deducible function!