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New Insights in Bioinformatics Metsada Pasmanik-Chor Bioinformatics Unit, Life Science, TAU. Topics: Why bioinformatics ? Classical bioinformatics- similarity, conserved regions and alignments The “post-genome” era- high throughput tools and complex system analysis.
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New Insights in Bioinformatics Metsada Pasmanik-Chor Bioinformatics Unit, Life Science, TAU • Topics: • Why bioinformatics ? • Classical bioinformatics- • similarity, conserved • regions and alignments • The “post-genome” era- • high throughput tools and • complex system analysis Metsada Pasmanik-Chor, TAU Bioinforamtics Unit
From Sequences to Functional Proteins - the Central Dogma of Molecular Biology CGCCAGCTGGACGGGCACACCATGAGGCTGCTGACCCTCCTGGGCCTTCTGTGTGGCTCGGTGGCCACCCCCTTAGGCCCGAAGTGGCCTGAACCTGTGTTCGGGCGCCTGGCATCCCCCGGCTTTCCAGGGGAGTATGCCAATGACCAGGAGCGGCGCTGGACCCTGACTGCACCCCCCGGCTACCGCCTGCGCCTCTACTTCACCCACTTCGACCTGGAGCTCTCCCACCTCTGCGAGTACGACTTCGTCAAG Sequence data = Strings of letters Metsada Pasmanik-Chor, TAU Bioinforamtics Unit
The Biotechnology Revolution Requires Bioinformatics Advancement Metsada Pasmanik-Chor, TAU Bioinforamtics Unit
The Human Genome Project (HGP) • Goals: • Sequence the human genome • Identify all genes • Predict gene function • Determine involvement • in human diseases. • Note: • Only 1 fully achieved so far Francis Collins(head of public project, NIH): “I think this is probably the most important scientific effort that mankind has ever mounted. That includes splitting the atom and going to the moon”. Metsada Pasmanik-Chor, TAU Bioinforamtics Unit
The Human Genome Project: ELSI Address the Ethical, Legal, and Social Implications (ELSI) that may arise from the HGP. Metsada Pasmanik-Chor, TAU Bioinforamtics Unit
Human Variability DNA Variability: SNPs and the HapMap Project • DNA is identical in all cells of an • individual, and almost identical among • different individuals of same species • (99.9% in humans). • For a variation to be considered • SNP, it must occur in at least 1% • of the population. The HapMap is a catalog of common genetic variants (haplotypes)in human,and their associations. Goal: Understand polymorphisms in terms of potential functionality, and relevance to human health. Metsada Pasmanik-Chor, TAU Bioinforamtics Unit http://www.nature.com/nature/journal/v437/n7063/pdf/4371241a.pdf
DNA Variability: SNPs and the HapMap Project Example of visualization for a non-synonymous SNP from alcohol dehydrogenase (PDB code1htb). Surface pocket R mutation47 Nucleic Acids Res. 2004 January 1; 32(Database issue): D520–D522 http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=308838 Metsada Pasmanik-Chor, TAU Bioinforamtics Unit
Sequenced Genomes No. of genes … … How Many Sequenced Genomes? Currently (May 20th, 2007) 558 complete genomes available: and more than 2,500 on-going projects ! Metsada Pasmanik-Chor, TAU Bioinforamtics Unit http://www.genomesonline.org/
Mouse and Human: Not So Far Apart Approx. 150“cut and paste”operations will “transform” humans into mice. Metsada Pasmanik-Chor, TAU Bioinforamtics Unit http://www.public.iastate.edu/~semrich/compgen/cg-header.gif