Background biology: chapter 1 Zvelebi and Baum.
Convergent/divergent evolution: box 4.2 in chapter 4 Zvelebi and Baum.
Homology/orthology/paralogy/xenology: chapter 7.2 Zvelebi and Baum and chapter 1.1 Durbin.
Alignments: chapter 5.1 Zvelebi and Baum and chapter 2.2 Durbin.
Substitution matrices: chapter 4.4 and 5.1 Zvelebi and Baum.
Dynamic programming: chapter 5.2 Zvelebi and Baum and chapter 2.3-2.4 Durbin.
Gap functions: chapter 4.4 and 5.1 Zvelebi and Baum.
Lecture 2 Pairwise alignment
Dot plots: chapter 4.2 Zvelebi and Baum
Measuring alignment similarity: chapter 4.2 Zvelebi and Baum.
Statistics of alignments: chapter 2.7 Durbin.
Lecture 3 Substitution matrices
From Understanding Bioinformatics (Zvelebil and Baum):
Substitution matrices (PAM, BLOSUM) and log-odds ratio: Chapter 4.3 and 5.1
Observed sequence distance: Chapter 7.2 p236-237 (Fig. 7.7) and 8.1
Jukes-Cantor and Kimura: Chapter 8.1 p271-273
Lecture 4 MSA 1
MSA: Chapter 6.3 (Durbin) and Lipman, D., Altschul, S., & Kececioglu, J. (1989). A Tool for Multiple
Sequence Alignment.
DCA: Chapter 4.5 p90-91 (Zvelebil and Baum)
Progressive alignment: Chapter 6.4 (Zvelebil and Baum) Chapter 6.4 (Durbin)
PSSM: Chapter 6.1 p167-168 (Zvelebil and Baum)
Lecture 5 Sequencing, BWA, QDNAseq
Human genome project, sequencing, de novo assembly (papers):
• Initial sequencing and analysis of the human genome (PMID:11237011,
DOI:10.1038/35057062) (first part of the paper (Background of the Human Genome Project
and Strategic Issues), more insights on other topics discussed in the lectures can be found in
the other paragraphs) link: https://www.nature.com/articles/35057062
• The Sequence of the Human Genome (PMID:11181995,
DOI:10.1126/science.1058040 (mainly paragraphs
1,2) link: https://science.sciencemag.org/content/291/5507/1304
Genome assembly (papers):
• How to apply de Bruijn graphs to genome assembly doi: 10.1038/nbt.2023 ( De Bruijn
graph) link: https://www.nature.com/articles/nbt.2023
• Sense from sequence reads: methods for alignment and assembly (alignment, BWT,
assembly, de Bruijn graph) link: https://www.nature.com/articles/nmeth.1376
3
, • Fast and accurate short read alignment with Burrows-Wheeler transform
doi:10.1093/bioinformatics/btp324 (BWT,
BWA) link: https://academic.oup.com/bioinformatics/article/25/14/1754/225615
QDNAseq (papers):
• DNA copy number analysis of fresh and formalin-fixed specimens by shallow whole-genome
sequencing with identification and exclusion of problematic regions in the genome assembly
(PMID:25236618
DOI:10.1101/gr.175141.114) link: https://genome.cshlp.org/content/24/12/2022
Lecture 6 MSA 2
T-COFFEE: Chapter 6.4 (Zvelebil and Baum) and paper:
Notredame, C., Higgins D., and Heringa, J. (2000) T-Coffee: A novel method for fast and accurate
multiple sequence alignment. J. Mol. Biol., 302, 205-
217. Link: https://pubmed.ncbi.nlm.nih.gov/10964570/
PRALINE: All PRALINE papers mentioned in the slides.
Sum-of-pairs score: Chapter 6.4 Fig. 6.14 p200-201(Zvelebil and Baum) Chapter 6.2 (Durbin)
Lecture 7 + 8 Homology Searching
Understanding Bioinformatics (Zvelebil and Baum):
• Chapter 4.6 & 4.7 - p. 93 - 102, 108
• Chapter 5.3 & 5.4 - p. 141 - 156
• Chapter 6.1 & 6.2 - p. 167 - 185
Biological Sequence Analysis (Durbin):
• Chapter 2.4 & 2.5 - p. 29 - 35
Lecture 9 + 10 Hidden Markov Models
• Prokaryote gene prediction: An Introduction to Hidden Markov Models for Biological
Sequences by Anders Krogh. Chapter 4.4.
Recommended reading:
* Delsuc, Brinkmann & Philippe, Phylogenomics and the reconstruction of the tree of life Nature
Reviews Genetics 2005 (presents phylogenomic methods for reconstructing species phylogenies;
including gene matrix and supertree approaches)
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