Accelerating Smith-Waterman Alignment Workload with Scalable Vector Computing
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Sequencing Alignment I Outline: Sequence Alignment
Sequencing Alignment I Lectures 16 – Nov 21, 2011 CSE 527 Computational Biology, Fall 2011 Instructor: Su-In Lee TA: Christopher Miles Monday & Wednesday 12:00-1:20 Johnson Hall (JHN) 022 1 Outline: Sequence Alignment What Why (applications) Comparative genomics DNA sequencing A simple algorithm Complexity analysis A better algorithm: “Dynamic programming” 2 1 Sequence Alignment: What Definition An arrangement of two or several biological sequences (e.g. protein or DNA sequences) highlighting their similarity The sequences are padded with gaps (usually denoted by dashes) so that columns contain identical or similar characters from the sequences involved Example – pairwise alignment T A C T A A G T C C A A T 3 Sequence Alignment: What Definition An arrangement of two or several biological sequences (e.g. protein or DNA sequences) highlighting their similarity The sequences are padded with gaps (usually denoted by dashes) so that columns contain identical or similar characters from the sequences involved Example – pairwise alignment T A C T A A G | : | : | | : T C C – A A T 4 2 Sequence Alignment: Why The most basic sequence analysis task First aligning the sequences (or parts of them) and Then deciding whether that alignment is more likely to have occurred because the sequences are related, or just by chance Similar sequences often have similar origin or function New sequence always compared to existing sequences (e.g. using BLAST) 5 Sequence Alignment Example: gene HBB Product: hemoglobin Sickle-cell anaemia causing gene Protein sequence (146 aa) MVHLTPEEKS AVTALWGKVN VDEVGGEALG RLLVVYPWTQ RFFESFGDLS TPDAVMGNPK VKAHGKKVLG AFSDGLAHLD NLKGTFATLS ELHCDKLHVD PENFRLLGNV LVCVLAHHFG KEFTPPVQAA YQKVVAGVAN ALAHKYH BLAST (Basic Local Alignment Search Tool) The most popular alignment tool Try it! Pick any protein, e.g. -
Comparative Analysis of Multiple Sequence Alignment Tools
I.J. Information Technology and Computer Science, 2018, 8, 24-30 Published Online August 2018 in MECS (http://www.mecs-press.org/) DOI: 10.5815/ijitcs.2018.08.04 Comparative Analysis of Multiple Sequence Alignment Tools Eman M. Mohamed Faculty of Computers and Information, Menoufia University, Egypt E-mail: [email protected]. Hamdy M. Mousa, Arabi E. keshk Faculty of Computers and Information, Menoufia University, Egypt E-mail: [email protected], [email protected]. Received: 24 April 2018; Accepted: 07 July 2018; Published: 08 August 2018 Abstract—The perfect alignment between three or more global alignment algorithm built-in dynamic sequences of Protein, RNA or DNA is a very difficult programming technique [1]. This algorithm maximizes task in bioinformatics. There are many techniques for the number of amino acid matches and minimizes the alignment multiple sequences. Many techniques number of required gaps to finds globally optimal maximize speed and do not concern with the accuracy of alignment. Local alignments are more useful for aligning the resulting alignment. Likewise, many techniques sub-regions of the sequences, whereas local alignment maximize accuracy and do not concern with the speed. maximizes sub-regions similarity alignment. One of the Reducing memory and execution time requirements and most known of Local alignment is Smith-Waterman increasing the accuracy of multiple sequence alignment algorithm [2]. on large-scale datasets are the vital goal of any technique. The paper introduces the comparative analysis of the Table 1. Pairwise vs. multiple sequence alignment most well-known programs (CLUSTAL-OMEGA, PSA MSA MAFFT, BROBCONS, KALIGN, RETALIGN, and Compare two biological Compare more than two MUSCLE). -
Chapter 6: Multiple Sequence Alignment Learning Objectives
Chapter 6: Multiple Sequence Alignment Learning objectives • Explain the three main stages by which ClustalW performs multiple sequence alignment (MSA); • Describe several alternative programs for MSA (such as MUSCLE, ProbCons, and TCoffee); • Explain how they work, and contrast them with ClustalW; • Explain the significance of performing benchmarking studies and describe several of their basic conclusions for MSA; • Explain the issues surrounding MSA of genomic regions Outline: multiple sequence alignment (MSA) Introduction; definition of MSA; typical uses Five main approaches to multiple sequence alignment Exact approaches Progressive sequence alignment Iterative approaches Consistency-based approaches Structure-based methods Benchmarking studies: approaches, findings, challenges Databases of Multiple Sequence Alignments Pfam: Protein Family Database of Profile HMMs SMART Conserved Domain Database Integrated multiple sequence alignment resources MSA database curation: manual versus automated Multiple sequence alignments of genomic regions UCSC, Galaxy, Ensembl, alignathon Perspective Multiple sequence alignment: definition • a collection of three or more protein (or nucleic acid) sequences that are partially or completely aligned • homologous residues are aligned in columns across the length of the sequences • residues are homologous in an evolutionary sense • residues are homologous in a structural sense Example: 5 alignments of 5 globins Let’s look at a multiple sequence alignment (MSA) of five globins proteins. We’ll use five prominent MSA programs: ClustalW, Praline, MUSCLE (used at HomoloGene), ProbCons, and TCoffee. Each program offers unique strengths. We’ll focus on a histidine (H) residue that has a critical role in binding oxygen in globins, and should be aligned. But often it’s not aligned, and all five programs give different answers. -
How to Generate a Publication-Quality Multiple Sequence Alignment (Thomas Weimbs, University of California Santa Barbara, 11/2012)
Tutorial: How to generate a publication-quality multiple sequence alignment (Thomas Weimbs, University of California Santa Barbara, 11/2012) 1) Get your sequences in FASTA format: • Go to the NCBI website; find your sequences and display them in FASTA format. Each sequence should look like this (http://www.ncbi.nlm.nih.gov/protein/6678177?report=fasta): >gi|6678177|ref|NP_033320.1| syntaxin-4 [Mus musculus] MRDRTHELRQGDNISDDEDEVRVALVVHSGAARLGSPDDEFFQKVQTIRQTMAKLESKVRELEKQQVTIL ATPLPEESMKQGLQNLREEIKQLGREVRAQLKAIEPQKEEADENYNSVNTRMKKTQHGVLSQQFVELINK CNSMQSEYREKNVERIRRQLKITNAGMVSDEELEQMLDSGQSEVFVSNILKDTQVTRQALNEISARHSEI QQLERSIRELHEIFTFLATEVEMQGEMINRIEKNILSSADYVERGQEHVKIALENQKKARKKKVMIAICV SVTVLILAVIIGITITVG 2) In a text editor, paste all your sequences together (in the order that you would like them to appear in the end). It should look like this: >gi|6678177|ref|NP_033320.1| syntaxin-4 [Mus musculus] MRDRTHELRQGDNISDDEDEVRVALVVHSGAARLGSPDDEFFQKVQTIRQTMAKLESKVRELEKQQVTIL ATPLPEESMKQGLQNLREEIKQLGREVRAQLKAIEPQKEEADENYNSVNTRMKKTQHGVLSQQFVELINK CNSMQSEYREKNVERIRRQLKITNAGMVSDEELEQMLDSGQSEVFVSNILKDTQVTRQALNEISARHSEI QQLERSIRELHEIFTFLATEVEMQGEMINRIEKNILSSADYVERGQEHVKIALENQKKARKKKVMIAICV SVTVLILAVIIGITITVG >gi|151554658|gb|AAI47965.1| STX3 protein [Bos taurus] MKDRLEQLKAKQLTQDDDTDEVEIAVDNTAFMDEFFSEIEETRVNIDKISEHVEEAKRLYSVILSAPIPE PKTKDDLEQLTTEIKKRANNVRNKLKSMERHIEEDEVQSSADLRIRKSQHSVLSRKFVEVMTKYNEAQVD FRERSKGRIQRQLEITGKKTTDEELEEMLESGNPAIFTSGIIDSQISKQALSEIEGRHKDIVRLESSIKE LHDMFMDIAMLVENQGEMLDNIELNVMHTVDHVEKAREETKRAVKYQGQARKKLVIIIVIVVVLLGILAL IIGLSVGLK -
To Find Information About Arabidopsis Genes Leonore Reiser1, Shabari
UNIT 1.11 Using The Arabidopsis Information Resource (TAIR) to Find Information About Arabidopsis Genes Leonore Reiser1, Shabari Subramaniam1, Donghui Li1, and Eva Huala1 1Phoenix Bioinformatics, Redwood City, CA USA ABSTRACT The Arabidopsis Information Resource (TAIR; http://arabidopsis.org) is a comprehensive Web resource of Arabidopsis biology for plant scientists. TAIR curates and integrates information about genes, proteins, gene function, orthologs gene expression, mutant phenotypes, biological materials such as clones and seed stocks, genetic markers, genetic and physical maps, genome organization, images of mutant plants, protein sub-cellular localizations, publications, and the research community. The various data types are extensively interconnected and can be accessed through a variety of Web-based search and display tools. This unit primarily focuses on some basic methods for searching, browsing, visualizing, and analyzing information about Arabidopsis genes and genome, Additionally we describe how members of the community can share data using TAIR’s Online Annotation Submission Tool (TOAST), in order to make their published research more accessible and visible. Keywords: Arabidopsis ● databases ● bioinformatics ● data mining ● genomics INTRODUCTION The Arabidopsis Information Resource (TAIR; http://arabidopsis.org) is a comprehensive Web resource for the biology of Arabidopsis thaliana (Huala et al., 2001; Garcia-Hernandez et al., 2002; Rhee et al., 2003; Weems et al., 2004; Swarbreck et al., 2008, Lamesch, et al., 2010, Berardini et al., 2016). The TAIR database contains information about genes, proteins, gene expression, mutant phenotypes, germplasms, clones, genetic markers, genetic and physical maps, genome organization, publications, and the research community. In addition, seed and DNA stocks from the Arabidopsis Biological Resource Center (ABRC; Scholl et al., 2003) are integrated with genomic data, and can be ordered through TAIR. -
"Phylogenetic Analysis of Protein Sequence Data Using The
Phylogenetic Analysis of Protein Sequence UNIT 19.11 Data Using the Randomized Axelerated Maximum Likelihood (RAXML) Program Antonis Rokas1 1Department of Biological Sciences, Vanderbilt University, Nashville, Tennessee ABSTRACT Phylogenetic analysis is the study of evolutionary relationships among molecules, phenotypes, and organisms. In the context of protein sequence data, phylogenetic analysis is one of the cornerstones of comparative sequence analysis and has many applications in the study of protein evolution and function. This unit provides a brief review of the principles of phylogenetic analysis and describes several different standard phylogenetic analyses of protein sequence data using the RAXML (Randomized Axelerated Maximum Likelihood) Program. Curr. Protoc. Mol. Biol. 96:19.11.1-19.11.14. C 2011 by John Wiley & Sons, Inc. Keywords: molecular evolution r bootstrap r multiple sequence alignment r amino acid substitution matrix r evolutionary relationship r systematics INTRODUCTION the baboon-colobus monkey lineage almost Phylogenetic analysis is a standard and es- 25 million years ago, whereas baboons and sential tool in any molecular biologist’s bioin- colobus monkeys diverged less than 15 mil- formatics toolkit that, in the context of pro- lion years ago (Sterner et al., 2006). Clearly, tein sequence analysis, enables us to study degree of sequence similarity does not equate the evolutionary history and change of pro- with degree of evolutionary relationship. teins and their function. Such analysis is es- A typical phylogenetic analysis of protein sential to understanding major evolutionary sequence data involves five distinct steps: (a) questions, such as the origins and history of data collection, (b) inference of homology, (c) macromolecules, developmental mechanisms, sequence alignment, (d) alignment trimming, phenotypes, and life itself. -
Aligning Reads: Tools and Theory Genome Transcriptome Assembly Mapping Mapping
Aligning reads: tools and theory Genome Transcriptome Assembly Mapping Mapping Reads Reads Reads RSEM, STAR, Kallisto, Trinity, HISAT2 Sailfish, Scripture Salmon Splice-aware Transcript mapping Assembly into Genome mapping and quantification transcripts htseq-count, StringTie Trinotate featureCounts Transcript Novel transcript Gene discovery & annotation counting counting Homology-based BLAST2GO Novel transcript annotation Transcriptome Mapping Reads RSEM, Kallisto, Sailfish, Salmon Transcript mapping and quantification Transcriptome Biological samples/Library preparation Mapping Reads RSEM, Kallisto, Sequence reads Sailfish, Salmon FASTQ (+reference transcriptome index) Transcript mapping and quantification Quantify expression Salmon, Kallisto, Sailfish Pseudocounts DGE with R Functional Analysis with R Goal: Finding where in the genome these reads originated from 5 chrX:152139280 152139290 152139300 152139310 152139320 152139330 Reference --->CGCCGTCCCTCAGAATGGAAACCTCGCT TCTCTCTGCCCCACAATGCGCAAGTCAG CD133hi:LM-Mel-34pos Normal:HAH CD133lo:LM-Mel-34neg Normal:HAH CD133lo:LM-Mel-14neg Normal:HAH CD133hi:LM-Mel-34pos Normal:HAH CD133lo:LM-Mel-42neg Normal:HAH CD133hi:LM-Mel-42pos Normal:HAH CD133lo:LM-Mel-34neg Normal:HAH CD133hi:LM-Mel-34pos Normal:HAH CD133lo:LM-Mel-14neg Normal:HAH CD133hi:LM-Mel-14pos Normal:HAH CD133lo:LM-Mel-34neg Normal:HAH CD133hi:LM-Mel-34pos Normal:HAH CD133lo:LM-Mel-42neg DBTSS:human_MCF7 CD133hi:LM-Mel-42pos CD133lo:LM-Mel-14neg CD133lo:LM-Mel-34neg CD133hi:LM-Mel-34pos CD133lo:LM-Mel-42neg CD133hi:LM-Mel-42pos CD133hi:LM-Mel-42poschrX:152139280 -
Alignment of Next-Generation Sequencing Data
Gene Expression Analyses Alignment of Next‐Generation Sequencing Data Nadia Lanman HPC for Life Sciences 2019 What is sequence alignment? • A way of arranging sequences of DNA, RNA, or protein to identify regions of similarity • Similarity may be a consequence of functional, structural, or evolutionary relationships between sequences • In the case of NextGen sequencing, alignment identifies where fragments which were sequenced are derived from (e.g. which gene or transcript) • Two types of alignment: local and global http://www‐personal.umich.edu/~lpt/fgf/fgfrseq.htm Global vs Local Alignment • Global aligners try to align all provided sequence end to end • Local aligners try to find regions of similarity within each provided sequence (match your query with a substring of your subject/target) gap mismatch Alignment Example Raw sequences: A G A T G and G A T TG 2 matches, 0 4 matches, 1 4 matches, 1 3 matches, 2 gaps insertion insertion end gaps A G A T G A G A ‐ T G . A G A T ‐ G . A G A T G . G A T TG . G A T TG . G A T TG . G A T TG NGS read alignment • Allows us to determine where sequence fragments (“reads”) came from • Quantification allows us to address relevant questions • How do samples differ from the reference genome • Which genes or isoforms are differentially expressed Haas et al, 2010, Nature. Standard Differential Expression Analysis Differential Check data Unsupervised expression quality Clustering analysis Trim & filter Count reads GO enrichment reads, remove aligning to analysis adapters each gene Align reads to Check -
Errors in Multiple Sequence Alignment and Phylogenetic Reconstruction
Multiple Sequence Alignment Errors and Phylogenetic Reconstruction THESIS SUBMITTED FOR THE DEGREE “DOCTOR OF PHILOSOPHY” BY Giddy Landan SUBMITTED TO THE SENATE OF TEL-AVIV UNIVERSITY August 2005 This work was carried out under the supervision of Professor Dan Graur Acknowledgments I would like to thank Dan for more than a decade of guidance in the fields of molecular evolution and esoteric arts. This study would not have come to fruition without the help, encouragement and moral support of Tal Dagan and Ron Ophir. To them, my deepest gratitude. Time flies like an arrow Fruit flies like a banana - Groucho Marx Table of Contents Abstract ..........................................................................................................................1 Chapter 1: Introduction................................................................................................5 Sequence evolution...................................................................................................6 Alignment Reconstruction........................................................................................7 Errors in reconstructed MSAs ................................................................................10 Motivation and aims...............................................................................................13 Chapter 2: Methods.....................................................................................................17 Symbols and Acronyms..........................................................................................17 -
Tunca Doğan , Alex Bateman , Maria J. Martin Your Choice
(—THIS SIDEBAR DOES NOT PRINT—) UniProt Domain Architecture Alignment: A New Approach for Protein Similarity QUICK START (cont.) DESIGN GUIDE Search using InterPro Domain Annotation How to change the template color theme This PowerPoint 2007 template produces a 44”x44” You can easily change the color theme of your poster by going to presentation poster. You can use it to create your research 1 1 1 the DESIGN menu, click on COLORS, and choose the color theme of poster and save valuable time placing titles, subtitles, text, Tunca Doğan , Alex Bateman , Maria J. Martin your choice. You can also create your own color theme. and graphics. European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), We provide a series of online tutorials that will guide you Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK through the poster design process and answer your poster Correspondence: [email protected] production questions. To view our template tutorials, go online to PosterPresentations.com and click on HELP DESK. ABSTRACT METHODOLOGY RESULTS & DISCUSSION When you are ready to print your poster, go online to InterPro Domains, DAs and DA Alignment PosterPresentations.com Motivation: Similarity based methods have been widely used in order to Generation of the Domain Architectures: You can also manually change the color of your background by going to VIEW > SLIDE MASTER. After you finish working on the master be infer the properties of genes and gene products containing little or no 1) Collect the hits for each protein from InterPro. Domain annotation coverage Overlap domain hits problem in Need assistance? Call us at 1.510.649.3001 difference b/w domain databases: the InterPro database: sure to go to VIEW > NORMAL to continue working on your poster. -
Orthofiller: Utilising Data from Multiple Species to Improve the Completeness of Genome Annotations Michael P
Dunne and Kelly BMC Genomics (2017) 18:390 DOI 10.1186/s12864-017-3771-x SOFTWARE Open Access OrthoFiller: utilising data from multiple species to improve the completeness of genome annotations Michael P. Dunne and Steven Kelly* Abstract Backround: Complete and accurate annotation of sequenced genomes is of paramount importance to their utility and analysis. Differences in gene prediction pipelines mean that genome annotations for a species can differ considerably in the quality and quantity of their predicted genes. Furthermore, genes that are present in genome sequences sometimes fail to be detected by computational gene prediction methods. Erroneously unannotated genes can lead to oversights and inaccurate assertions in biological investigations, especially for smaller-scale genome projects, which rely heavily on computational prediction. Results: Here we present OrthoFiller, a tool designed to address the problem of finding and adding such missing genes to genome annotations. OrthoFiller leverages information from multiple related species to identify those genes whose existence can be verified through comparison with known gene families, but which have not been predicted. By simulating missing gene annotations in real sequence datasets from both plants and fungi we demonstrate the accuracy and utility of OrthoFiller for finding missing genes and improving genome annotations. Furthermore, we show that applying OrthoFiller to existing “complete” genome annotations can identify and correct substantial numbers of erroneously missing genes in these two sets of species. Conclusions: We show that significant improvements in the completeness of genome annotations can be made by leveraging information from multiple species. Keywords: Genome annotation, Gene prediction, Orthology, Orthogroup Background of several effective algorithms for identifying genes in Genome sequences have become fundamental to many de novo sequenced genomes [3]. -
Developing and Implementing an Institute-Wide Data Sharing Policy Stephanie OM Dyke and Tim JP Hubbard*
Dyke and Hubbard Genome Medicine 2011, 3:60 http://genomemedicine.com/content/3/9/60 CORRESPONDENCE Developing and implementing an institute-wide data sharing policy Stephanie OM Dyke and Tim JP Hubbard* Abstract HapMap Project [7], also decided to follow HGP prac- tices and to share data publicly as a resource for the The Wellcome Trust Sanger Institute has a strong research community before academic publications des- reputation for prepublication data sharing as a result crib ing analyses of the data sets had been prepared of its policy of rapid release of genome sequence (referred to as prepublication data sharing). data and particularly through its contribution to the Following the success of the first phase of the HGP [8] Human Genome Project. The practicalities of broad and of these other projects, the principles of rapid data data sharing remain largely uncharted, especially to release were reaffirmed and endorsed more widely at a cover the wide range of data types currently produced meeting of genomics funders, scientists, public archives by genomic studies and to adequately address and publishers in Fort Lauderdale in 2003 [9]. Meanwhile, ethical issues. This paper describes the processes the Organisation for Economic Co-operation and and challenges involved in implementing a data Develop ment (OECD) Committee on Scientific and sharing policy on an institute-wide scale. This includes Tech nology Policy had established a working group on questions of governance, practical aspects of applying issues of access to research information [10,11], which principles to diverse experimental contexts, building led to a Declaration on access to research data from enabling systems and infrastructure, incentives and public funding [12], and later to a set of OECD guidelines collaborative issues.