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Unformatted text preview: bases in a month. GC C G C A T G T C GT A A C TT 5’ primer 3’
GCCGCAT GT C GT AACT T
CGGCGT ACAGCAT T GAA
3’ Alternative Sequencing Paradigms Massively parallel
sequencing Nanopore sequencing Sequencing
by hybridization Real-time sequencingby-synthesis What can a sequencer do today?
In 8 days… (Illumina HiSeq 2000) “Paired end” 100 bp reads
>2 billion read-pairs
>400 gigabases (Gb) of total output
1 in 1,000 error rate for most base-calls
Initial draft of human genome based on 23
Gb Next Generation Biology Erez Lieberman-Aiden, Lauren Solomon The human (and other) genomeswhat have we learned?
Number of human genes is fewer than expected (but alternative splicing
increases that number). Presesnt estimate is ~30,000.
Gene arrangement is often conserved between species (synteny).
Polymorphisms, differences between individuals in the same species, are very
frequent (~1 change per 1000 nucleotides).
The number of gene families is similar in flies and humans.
Most human genes have orthologs in other species-even down to yeast. This fact
is important for studying gene function.
There are many paralogs: related genes in the same genome due to gene
(Homologs are genes related by descent from a common ancestor, an example
of divergent evolution). 27 www.wellcome.ac.uk/en/genome/genesandbody...
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- Fall '10