Variant calling and/or genotyping

• DiscoSNP++ and discoSnpRAD: Reference-free small variant discovery (SNPs and indels)
• MindTheGap: Detection and assembly of large insertion variants
• TakeABreak: reference-free inversion discovery tool
• SVJedi: Structural Variant genotyper with long read data
• SVJedi-graph: Structural Variant genotyper with long read data using a variation graph

Sequence assembly

• MinYS: reference-guided genome assembly in metagenomics data
• MTG-link: local assembly tool for linked-read data
• Minia: De novo short read assembler
• de-novo pipeline: de-novo assembly pipeline (error correction / contigs / scaffolding) for genomes and meta-genomes
• Mapsembler2: Targeted assembly (not maintained)

Managing k-mers & indexation

• findere: simple strategy for speeding up queries and for reducing false positive calls from any Approximate Membership Query data structure.
  • fimpera extends findere adding the abundance information.
• kmtricks: modular tool suite for counting kmers, and constructing Bloom filters or kmer matrices, for large collections of sequencing data.
• kmindex is a tool for indexing and querying sequencing samples. It is built on top of kmtricks.
• back to sequences: Find sequences (reads, unitigs, genes) related to a set of kmers in large datasets, in a matter of seconds.
• Backpack Quotient Filter: k-mer indexing data structure with abundance
• short read connector: Detect similar reads from potentially large read set
• DSK: Count K-mer in sequences

Pangenome graph manipulation

• Pancat: Pangenome Comparison and Analysis Toolkit
• GFAGraphs: a Python library to handle pangenome graph files in GFA format.

Comparative metagenomics with k-mers

• Simka and SimkaMin: Comparative metagenomics for large-scale datasets
• Comparead & Commet: comparison of metagenomic datasets

Species and bacterial strains identification

• ORI: software using long nanopore reads to identify bacteria present in a sample at the strain level
• StrainFLAIR: STRAIN-level proFiLing using vArIation gRaph

General-purpose sequencing data manipulation

• GASSST: long read mapper
• Leon: short read compressor (now included in GATB-core)
• Bloocoo: short read corrector
• BCALM: Construct compacted de Bruijn graphs (unitigs)

 Protein Structure

• A_Purva: Contact Map Overlap solver
• MD-Jeep: Distance Geometry solver
• CSA: Comparative Structural Alignment

Workflow

• SLICEE: parallel execution of bioinformatics workflows

Comparative Genomics

• CASSIS: detection of rearrangement breakpoints
• PLAST: intensive bank-to-bank sequence comparison
• DRJBreakpointFinder: detection and precise localization of excision sites in proviral segments

ECM3413 - Bioinformatics

Contents

General Information

Lecture Slides

Past Exam Paper

Continuous Assessments

Suggested Reading List

General Information

	This module runs in Semester 2.
	It is taught by Dr Ed Keedwell (Module Coordinator)
	Module Descriptor:  ECM3413
	Lecture Times: Tuesday 5pm,  171| Thursday, 171
	Workshop Times: Wednesday 11am Blue Room (Weeks 29,33 &40)
	Assessment: 2 CAs each worth 15% | 1 Examination worth 70%

Lecture Slides (if you have to print slides, to save your ink choose 'print in black and white' on the print menu)

	PPT|PDF| Lecture 1 - Introduction to Bioinformatics (& Biology)
	PPT|PDF| Lecture 2 - Genome Sequences: from fragments to sequences
	PPT|PDF| Lecture 3 - Sequence Alignment 1
	PPT|PDF| Lecture 4 - Global Pairwise Sequence Alignment
	PPT|PDF| Lecture 5 - Local Pairwise Sequence Alignment (Smith-Waterman & BLAST)
	DOC| Workshop 1 - Using BLAST and other Bioinformatics Databases
	PPT|PDF| Lecture 6 - Multiple Sequence Alignment
	PPT|PDF| Lecture 7 - BLAST (in more detail) & FASTA
	PPT|PDF| Lecture 8 - Sequence Alignment Conclusion & Other Sequence Analyses
	PPT|PDF| Lecture 9 - Markov Chains and Intro to Hidden Markov Models
	PPT|PDF| Lecture 10 - Hidden Markov Models
	PPT|PDF| Lecture 11 - Classification in Bioinformatics
	DOC|Workshop 2 - Using See5
	Workshop Data - Part 1 - adult.names | adult.data | adult.test, Part 3 - wdbc.names| wdbc.data
	PPT|PDF| Lecture 12 - Gene Expression Data
	PPT|PDF| Lecture 13 - Decision Trees and Gene Expression Classification
	PPT|PDF| Lecture 14 - Other Methods for Gene Expression Classification
	PPT|PDF| Lecture 15 - Gene Regulation
	PPT|PDF| Lecture 16 - Neural Networks in Gene Expression Analysis
	PPT|PDF| Lecture 17 - Genome Analysis
	PPT|PDF| Lecture 18 - Conclusion/Revision Lecture

For some reason best known to itself, my PDF creator doesn't like the slide with the substitution matrix on.  Therefore this has been removed from Lectures 3 and 7 for the PDF copy only - however, more information on these matrices can be found here.

Past Exam Paper

The paper from 2007/8 can be found here.

Continuous Assessments

	PDF|  CA1 - Manual Sequence Alignment
	PDF|Promoter.names|Promoter.data|ML.names|ML.data| CA2 - Data Mining in Bioinformatics

Suggested Reading List

General Bioinformatics

<="top">Xiong, J., (2006) Essential Bioinformatics, Cambridge University Press

	Lesk, A.M., (2002) Introduction to Bioinformatics, Oxford University Press
	Higgs, P.G., (2005) Bioinformatics and Molecular Evolution,  Blackwell Publishing

Machine Learning in Bioinformatics

	Baldi, P., Brunak, S., (2001) Bioinformatics: The Machine Learning Approach, MIT Press
	Keedwell, E., Narayanan, A., (2005) Intelligent Bioinformatics: The Application of Artificial Intelligence Techniques to Bioinformatics Problems, Wiley