Bio-Informatics Lectures. A Short Introduction

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Transcription:

Bio-Informatics Lectures A Short Introduction

The History of Bioinformatics

Sanger Sequencing PCR in presence of fluorescent, chain-terminating dideoxynucleotides

Massively Parallel Sequencing

Massively Parallel Sequencing Illumina/Solexa

Roche/454, Emulsion PCR Metzker, Nature Review: Genetics (11):31-46

Illumina/Solexa: Solid-Phase Amplification

http://www.genome.gov/sequencingcosts/

http://www.genome.gov/sequencingcosts/

Growth of GenBank and WGS 1000 billion bases ~200 million sequences http://www.ncbi.nlm.nih.gov/genbank/statistics

Growth of UniProtKB/TrEMBL http://www.ebi.ac.uk/uniprot/tremblstats

How Does the Sequence Information Tell Us?

How Does the Sequence Information Tell Us? Bio-Informatics

Scope of this lab 1. Be familiar with sequence databases and some online bioinformatics tools DATABASES: GenBank-http://www.ncbi.nlm.nih.gov EMBL-http://www.ebi.ac.uk DDBJ-http://www.ddbj.nig.ac.jp Sequence Search and Retrieval: BLAST Sequence Alignement: ClustalW2, MAFFT Sequences Analysis and Domain Search: Pfam and SMART Protein Structure and Prediction: Pymol Molecular Evolution: MEGA More Tools to Discover on Your Own http://www.ebi.ac.uk/services/all http://www.expasy.org

Online Tools

Scope of this lab 2. Touch Some Simple Programming (Stand-alone) Basic UNIX Commands: cd, mkdir, mv. cp, rm, cat, ls, pwd, gunzip, unzip, tar Perl: String, Array, Hash R: Read a file, column, row, plot, hist, heat map

Beginning with a DNA Sequence

Proteins N-termnus MQIFVKTLTGKTITLEVESSDTIDNVKAKIQDKEGIPPDQQ RLIFAGKQLEDGRTLADYNIQKESTLHLVLRLRGG C-termnus The primary sequence, structure, and function of a protein are inter-related

Database Sequence Similarity Searching Definition: Applies computation, mathematical algorithms, statistical inference to rapidly find similar sequences (hits) to a target (query) sequence from a database. All similarity searching methods rely on the concepts of alignment between sequences. A similarity score is calculated from a distance: the number of DNA bases or amino acids that are different between two sequences.

Edit Distance

Edit Distance

Sequence Alignement and Dynamic Programming

Sequence Alignement Comparison and Substitution Matrix Some popular scoring matrices are: PAM (Point Accepted Mutation): for evolutionary studies. For example in PAM1, 1 accepted point mutation per 100 amino acids is required. BLOSUM (BLOcks amino acid Substitution Matrix): for finding common motifs. For example in BLOSUM62, the alignment is created using sequences sharing no more than 62% identity. Experimentation has shown that the BLOSUM-62 matrix is among the best for detecting most weak protein similarities.

Sequence Alignement Comparison and Substitution Matrix Some popular scoring matrices are: PAM (Point Accepted Mutation): for evolutionary studies. For example in PAM1, 1 accepted point mutation per 100 amino acids is required. BLOSUM (BLOcks amino acid Substitution Matrix): for finding common motifs. For example in BLOSUM62, the alignment is created using sequences sharing no more than 62% identity. Experimentation has shown that the BLOSUM-62 matrix is among the best for detecting most weak protein similarities.

Sequence Alignement Comparison and Substitution Matrix Some popular scoring matrices are: PAM (Point Accepted Mutation): for evolutionary studies. For example in PAM1, 1 accepted point mutation per 100 amino acids is required. BLOSUM (BLOcks amino acid Substitution Matrix): for finding common motifs. For example in BLOSUM62, the alignment is created using sequences sharing no more than 62% identity. Experimentation has shown that the BLOSUM-62 matrix is among the best for detecting most weak protein similarities.

Sequence Alignement Comparison and Substitution Matrix Some popular scoring matrices are: PAM (Point Accepted Mutation): for evolutionary studies. For example in PAM1, 1 accepted point mutation per 100 amino acids is required. BLOSUM (BLOcks amino acid Substitution Matrix): for finding common motifs. For example in BLOSUM62, the alignment is created using sequences sharing no more than 62% identity. Experimentation has shown that the BLOSUM-62 matrix is among the best for detecting most weak protein similarities.

Sequence Alignement Comparison and Substitution Matrix

Sequence Alignement Comparison and Substitution Matrix Log-odds matrices

Local and Global Alignements Needleman-Wunsch Smith-Waterman

BLAST/FASTA Search and k-tuple Method

Use proteins for database similarity searches when possible

Lab 1 Sequence Search and Retrieval: BLAST Sequence Alignement: ClustalW2, MAFFT Sequences Analysis and Domain Search: Pfam and SMART Protein Structure and Prediction: Pymol Molecular Evolution: MEGA Sequence Format - Fasta >AT4G05320 ATGCAGATCTTTGTTAAGACTCTCACCGGAAAGACAATCACCCTCGAGGTGGAAAGCTCCGACACCATCGACAACGTTAAGGC CAAGATCCAGGATAAGGAGGGCATTCCTCCGGATCAGCAGAGGCTTATTTTCGCCGGCAAGCAGCTAGAGGATGGCCGTACG TTGGCTGATTACAATATCCAGAAGGAATCCACCCTCCACTTGGTCCTCAGGCTCCGTGGTGGTATGCAGATTTTCGTTAAAACC CTAACGGGAAAGACGATTACTCTTGAGGTGGAGAGTTCTGACACCATCGACAACGTCAAGGCCAAGATCCAAGACAAAGAGG GTATTCCTCCGGACCAGCAGAGGCTGATCTTCGCCGGAAAGCAGTTGGAGGATGGCAGAACTCTTGCTGACTACAATATCCA GAAGGAGTCCACCCTTCATCTTGTTCTCAGGCTCCGTGGTGGTATGCAGATTTTCGTTAAGACGTTGACTGGGAAAACTATCAC TTTGGAGGTGGAGAGTTCTGACACCATTGATAACGTGAAAGCCAAGATCCAAGACAAAGAGGGTATTCCTCCGGACCAGCAG AGATTGATCTTCGCCGGAAAACAACTTGAAGATGGCAGAACTTTGGCCGACTACAACATTCAGAAGGAGTCCACACTCCACTT GGTCTTGCGTCTGCGTGGAGGTATGCAGATCTTCGTGAAGACTCTCACCGGAAAGACCATCACTTTGGAGGTGGAGAGTTCT GACACCATTGATAACGTGAAAGCCAAGATCCAGGACAAAGAGGGTATCCCACCGGACCAGCAGAGATTGATCTTCGCCGGAA AGCAACTTGAAGATGGAAGAACTTTGGCTGACTACAACATTCAGAAGGAGTCCACACTTCACTTGGTCTTGCGTCTGCGTGGA GGTATGCAGATCTTCGTGAAGACTCTCACCGGAAAGACTATCACTTTGGAGGTAGAGAGCTCTGACACCATTGACAACGTGAA GGCCAAGATCCAGGATAAGGAAGGAATCCCTCCGGACCAGCAGAGGTTGATCTTTGCCGGAAAACAATTGGAGGATGGTCGT ACTTTGGCGGATTACAACATCCAGAAGGAGTCGACCCTTCACTTGGTGTTGCGTCTGCGTGGAGGTATGCAGATCTTCGTCAA GACTTTGACCGGAAAGACCATCACCCTTGAAGTGGAAAGCTCCGACACCATTGACAACGTCAAGGCCAAGATCCAGGACAA GGAAGGTATTCCTCCGGACCAGCAGCGTCTCATCTTCGCTGGAAAGCAGCTTGAGGATGGACGTACTTTGGCCGACTACAAC ATCCAGAAGGAGTCTACTCTTCACTTGGTCCTGCGTCTTCGTGGTGGTTTCTAA

Lab 1 - BLAST

Lab 1 - BLAST

Lab 1 - BLAST

Lab 1 - BLAST E value: is the expectation value or probability to find by chance hits similar to your sequence. The lower the E, the more significant the score.

Lab 1 - BLAST

Lab 1 - BLAST

Lab 1 - BLAST

Lab 1 - BLAST

Lab 1 - BLAST

Lab 1 - Domain Search

Lab 1 - Domain Search

Lab 1 - Domain Search

Lab 1 - Structure Visualization Pymol

Lab 1 - Phylogenetics http://www.megasoftware.net

Lab 1 - Phylogenetics UPGMA (Unweighted Pair Group Method with Arithmetic Mean) Maximum likelihood Maximum parsimony Neighbor joining MrBayes: Bayesian Inference of Phylogeny