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Using graphs to assemble genomes Bioinformatics course (MTAT.03.239) 06.10.16 Priit Adler

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Page 1: Using graphs to assemble genomes - ut · Bioinformatics course (13.10, here) Models and methods for genotype to phenotype by Leopold Parts Bioinformatics seminar (14.10, room from

Using graphs to assemble genomes

Bioinformatics course (MTAT.03.239) 06.10.16 Priit Adler

Page 2: Using graphs to assemble genomes - ut · Bioinformatics course (13.10, here) Models and methods for genotype to phenotype by Leopold Parts Bioinformatics seminar (14.10, room from

Genome revolutionhttps://www.youtube.com/watch?v=u8bsCiq6hvM

Page 3: Using graphs to assemble genomes - ut · Bioinformatics course (13.10, here) Models and methods for genotype to phenotype by Leopold Parts Bioinformatics seminar (14.10, room from

DETOUR: array design

Page 4: Using graphs to assemble genomes - ut · Bioinformatics course (13.10, here) Models and methods for genotype to phenotype by Leopold Parts Bioinformatics seminar (14.10, room from

Affymetrix GeneChip® microarray design

http://www.oceanridgebio.com/affymetrix-gene-chip.html

Page 5: Using graphs to assemble genomes - ut · Bioinformatics course (13.10, here) Models and methods for genotype to phenotype by Leopold Parts Bioinformatics seminar (14.10, room from

Sequencing

Pyrosequencing: https://www.youtube.com/watch?v=nFfgWGFe0aA

Sequencing by synthesis: https://www.youtube.com/watch?v=womKfikWlxM

Overview of 4 types of sequencing: https://www.youtube.com/watch?v=jFCD8Q6qSTM

https://en.wikipedia.org/wiki/DNA_sequencing

Page 6: Using graphs to assemble genomes - ut · Bioinformatics course (13.10, here) Models and methods for genotype to phenotype by Leopold Parts Bioinformatics seminar (14.10, room from

Oxford Nanopore MinION

Page 8: Using graphs to assemble genomes - ut · Bioinformatics course (13.10, here) Models and methods for genotype to phenotype by Leopold Parts Bioinformatics seminar (14.10, room from

Human full genome: 3234,8 Mb

Tallinn - Jõgeva - Misso: 320 km

ATGCTCGTAC = 1mm

Page 9: Using graphs to assemble genomes - ut · Bioinformatics course (13.10, here) Models and methods for genotype to phenotype by Leopold Parts Bioinformatics seminar (14.10, room from

NGS strategies

http://www.nature.com/nrd/journal/v12/n5/full/nrd3979.html

Page 10: Using graphs to assemble genomes - ut · Bioinformatics course (13.10, here) Models and methods for genotype to phenotype by Leopold Parts Bioinformatics seminar (14.10, room from

Genomic data

http://www.ncbi.nlm.nih.gov/genbank/statistics

Growth of GenBank and WGS

Page 11: Using graphs to assemble genomes - ut · Bioinformatics course (13.10, here) Models and methods for genotype to phenotype by Leopold Parts Bioinformatics seminar (14.10, room from

http://www.ebi.ac.uk/~nf/hts_mappers/

Sequence alignment

Page 12: Using graphs to assemble genomes - ut · Bioinformatics course (13.10, here) Models and methods for genotype to phenotype by Leopold Parts Bioinformatics seminar (14.10, room from

Databases

https://www.ncbi.nlm.nih.gov/sra

http://www.ebi.ac.uk/ena

Page 13: Using graphs to assemble genomes - ut · Bioinformatics course (13.10, here) Models and methods for genotype to phenotype by Leopold Parts Bioinformatics seminar (14.10, room from

Chapter 3 videos

https://www.youtube.com/playlist?list=PLQ-85lQlPqFNGdaeGpV8dPEeSm3AChb6L

http://bioinformaticsalgorithms.com/index.htm

Page 14: Using graphs to assemble genomes - ut · Bioinformatics course (13.10, here) Models and methods for genotype to phenotype by Leopold Parts Bioinformatics seminar (14.10, room from

Recap video lectures

Newspaper experiment

k-mer composition of a sequence

ATGCATACTGTTATGGAGC k = 3

Page 15: Using graphs to assemble genomes - ut · Bioinformatics course (13.10, here) Models and methods for genotype to phenotype by Leopold Parts Bioinformatics seminar (14.10, room from

Recap video lectures

Hamiltonian path finding problem

vs

de Bruijn graphATGCATACTGTTATGGAGC k = 3

Page 16: Using graphs to assemble genomes - ut · Bioinformatics course (13.10, here) Models and methods for genotype to phenotype by Leopold Parts Bioinformatics seminar (14.10, room from

Recap video lectures

Eulerian path finding problem (Eulerian theorem)

Universal string problemk = {2,3}

Page 17: Using graphs to assemble genomes - ut · Bioinformatics course (13.10, here) Models and methods for genotype to phenotype by Leopold Parts Bioinformatics seminar (14.10, room from

Recap video lectures

Hamilton vs Euler

Paired de Bruijn graph

ATGCATACTGTTATGGAGC k = 3, d = 1

Page 18: Using graphs to assemble genomes - ut · Bioinformatics course (13.10, here) Models and methods for genotype to phenotype by Leopold Parts Bioinformatics seminar (14.10, room from

PROBLEMS WITH REALITY

Page 19: Using graphs to assemble genomes - ut · Bioinformatics course (13.10, here) Models and methods for genotype to phenotype by Leopold Parts Bioinformatics seminar (14.10, room from

Bioinformatics Algorithms

An Active Learning Approach

1st Edition:

www.ester.ee/record=b4422219

2nd Edition:

www.ester.ee/record=b4517979

https://youtu.be/yfXeKPt0nw4

http://bioinformaticsalgorithms.com/index.htm

Page 20: Using graphs to assemble genomes - ut · Bioinformatics course (13.10, here) Models and methods for genotype to phenotype by Leopold Parts Bioinformatics seminar (14.10, room from

Chapter 3 homeworkhttp://rosalind.info/classes/337/

Due 19.10.16 midnight

tasks 23-35: choose min 6, max 9 tasks

Page 21: Using graphs to assemble genomes - ut · Bioinformatics course (13.10, here) Models and methods for genotype to phenotype by Leopold Parts Bioinformatics seminar (14.10, room from

Next weekBioinformatics course (13.10, here)

Models and methods for genotype to phenotype

by Leopold Parts

Bioinformatics seminar (14.10, room from Sulev next week)

Bioinformatics methods for analysing genetic screens and cellular phenotypes

by Leopold Parts