<![CDATA[BOL: Related items]]> https://bioinformaticsonline.com/related/4761?offset=30 https://bioinformaticsonline.com/blog/view/44616/basics-of-blast-programs Fri, 26 Jul 2024 06:04:26 -0500 https://bioinformaticsonline.com/blog/view/44616/basics-of-blast-programs <![CDATA[Basics of BLAST Programs !]]> The Basic Local Alignment Search Tool (BLAST) is a powerful bioinformatics program used to compare an input sequence (such as DNA, RNA, or protein sequences) against a database of sequences to find regions of similarity. Developed by the National Center for Biotechnology Information (NCBI), BLAST is widely used for identifying species, finding functional and evolutionary relationships between sequences, and predicting the function of novel sequences.

Key Features of BLAST:
1. Sequence Comparison: BLAST searches for local alignments between the query sequence and sequences in a database. It identifies regions of similarity, which can help infer functional and evolutionary relationships.

2. Speed and Efficiency: BLAST uses heuristic algorithms, making it faster than exhaustive search methods, suitable for large-scale database searches.

3. Versatility: There are several versions of BLAST for different types of sequence comparisons:
- blastn: Compares a nucleotide query sequence against a nucleotide sequence database.
- blastp: Compares a protein query sequence against a protein sequence database.
- blastx: Compares a nucleotide query sequence translated in all reading frames against a protein sequence database.
- tblastn: Compares a protein query sequence against a nucleotide sequence database translated in all reading frames.
- tblastx: Compares the six-frame translations of a nucleotide query sequence against the six-frame translations of a nucleotide sequence database.

4. Scoring and E-value: BLAST results are scored based on the quality and length of the alignments. The E-value (expect value) indicates the number of alignments one can expect to find by chance, with lower E-values representing more significant matches.

5. Output Formats: BLAST provides results in various formats, including plain text, HTML, XML, and JSON, making it adaptable for different types of analyses and integrations with other tools.

Applications of BLAST:
- Genomic Research: Identifying genes, understanding genetic diversity, and mapping genome sequences.
- Protein Function Prediction: Inferring the function of unknown proteins by comparing them to known protein sequences.
- Evolutionary Studies: Exploring evolutionary relationships between organisms by comparing their genetic material.
- Medical Research: Identifying pathogens, understanding disease mechanisms, and developing treatments by comparing sequences of interest.

Overall, BLAST is an essential tool in bioinformatics, offering a reliable and efficient way to analyze and interpret biological sequence data.

]]> BioStar https://bioinformaticsonline.com/blog/view/38238/list-of-motif-discovery-tools Tue, 20 Nov 2018 03:54:26 -0600 https://bioinformaticsonline.com/blog/view/38238/list-of-motif-discovery-tools <![CDATA[List of motif discovery tools !]]>
In genetics, a sequence motif is a nucleotide or amino-acid sequence pattern that is widespread and has, or is conjectured to have, a biological significance. For proteins, a sequence motif is distinguished from a structural motif, a motif formed by the three-dimensional arrangement of amino acids which may not be adjacent.
 
Following are the list of tools for motif discovery:
 

Perform secondary structure predictions on protein sequences.

Find binding specificity information about DNA-protein complexes.

Find information about the binding specificity of DNA-binding proteins.

Use this web-based sequence motif visualization system to display sequence motif information in its appropriate three-dimensional (3D) context.

Protein function prediction and annotation in an integrated environment powered by web service.

Use to predict function from de novo protein sequences.

Search for short active protein sequences with demonstrated biological activities.

Search for ungapped segments corresponding to the most highly conserved regions of proteins.

Identify and measure surface accessible pockets as well as interior inaccessible cavities, for proteins and other molecules.

To search for catalytic residue annotation for enzymes in the Protein Data Bank.

Predict protein function using Gene Ontology.

Automatically calculate evolutionary conservation scores of key amino acid residues and map them on protein structures.

Mine the protein structure space.

Predict short linear motifs (3-8 residues) in a set of protein sequences.

A web client for visualizing protein sequence feature information using DAS.

Identify the domain architecture within a protein sequence.

Predict functional sites in eukaryotic proteins.

Use a collection of tools for protein analyses.

Predict potential protein post-translational modifications and find potential single amino acid substitutions in peptides.

Search for information related to the catalytic mechanisms of enzymes.

An integrated feature-based function prediction server for vertebrate proteomes.

Identify the closest matching PRINTS sequence motif fingerprints in a protein sequence.

Search for functional annotation of important sites in proteins with known structures.

Produce 3D conformations of small drug compounds.

A database presenting experiment-based results in human proteomics.

Conduct exhaustive intermediate profile searches of a set of homologous protein sequences.

Design protein mutations in site-directed mutagenesis.

Annotate protein using this integrated annotation resource.

Identify protein family (and DNA) domains, patterns, motifs, protein families, and functional sites.

Interactive forecasting of protein interaction hot spots.

Database containing pairs of structural analogs and their alignments.

Find sequence patterns in DNA and protein sequences.

A web server for knowledge-based modeling of protein-peptide complexes, specifically peptides in complex with major histocompatibility complex (MHC) proteins and kinases.

Find structural segments or motifs for protein structures.

Visualize protein sequence motifs on the 3D protein structures.

Find presence of any known protein motif (Prosite and Pfam) in a protein sequence.

Recognize spatial chemical binding patterns common to a set of protein structures.

Analyze proteins for the presence of N-terminal N-myristoylation site.

Find the presence of N-Glycosylation sites in human proteins.

Find the presence of O-GalNAc (mucin type) glycosylation sites in mammalian proteins.

Analyze eukaryotic proteins for the presence of serine, threonine and tyrosine phosphorylation sites.

Find possible kinase specific phosphorylation sites in eukaryotic proteins.

Predict cleavage sites at basic amino acid locations in neuropeptide precursor sequences.

Find information about patented nucleotide and protein sequences.

Search for information about glycoproteins with O-linked and C-linked glycosylation sites.

Find information about protein sequence annotations.

A server to predict protein active site residues.

Search for structural and functional information on the protein functional sites.

Search 3D protein fragments similar in structure to known active, binding and posttranslational modification sites.

Conduct genome wide functional and structural analysis.

Search for phosphorylation data of any protein of interest.

Search for information on prokaryotic proteins that undergo serine, threonine, or tyrosine phosphorylation.

Determine correct names for proteins.

Web application for predicting protein disorder by using physicochemical features and reduced amino acid set of a position-specific scoring matrix.

Find homologous protein-protein interactions across multiple species.

Search your query sequence against PROSITE pattern database for protein motifs.

Find information about protein-RNA complexes from the Protein Data Bank (PDB).

Identify protein families and domains for a given protein sequence.

A comprehensive database of pattern-recognition receptors and their ligands.

Search for short nucleotide or peptide sequences such as cis-elements in nucleotide sequences or small domains and motifs in protein sequences.

Database specialized in documenting human PPBD-containing proteins and PPBD-mediated interactions.

Predicts potential protease cleavage sites and sites cleaved by chemicals in a given protein sequence.

Predict combined transmembrane topology and signal peptides.

Search for eukaryotic phosphorylation sites.

Search for 3D structure and functional annotation of phosphorylation sites in proteins.

Search the database of in vivo phosphorylation sites of human and mouse proteins

Find information about polyglutamine (polyQ) repeats.

Find the presence of protein motifs and patterns in an amino acid sequence.

Predict signal peptide sequences and their cleavage positions in bacterial and eukaryotic amino acid sequences.

Predict protein functions based on known structures.

Predict the location of potential protein-protein binding sites for unbound proteins.

Identify short linear signatures in protein termini.

Analyze and identify newly obtained protein sequences.

Predict protein binding sites in a protein sequence based on geometrical analysis of protein tertiary substructures.

Search for evolutionarily conserved motif-like patterns in protein sequences.

Web-based server for analyzing and predicting RNA binding sites in proteins.

Search for similarities between proteins by simultaneous matching of multiple motifs.

Predict residues in protein sequences that determine the proteins' functional specificity.

Predict specificity-determining residues in protein families.

Find shared motifs in proteins with a common attribute.

Conduct in silico sumoylation sites prediction.

Search for motifs and patterns within protein sequences.

Search for motifs within proteins that are likely to be phosphorylated by specific protein kinases or bind to domains such as SH2 domains, 14-3-3 domains or PDZ domains.

Find information about populations carrying polymorphisms within protein binding pockets that make them susceptible to serious adverse drug reaction (SADR).

Search the presence of a motif in either amino acid sequence or nucleotide sequence.

Predict the presence of tyrosine sulfation sites in protein sequences

Look at protein structure from a ligand and binding site perspective.

Use a collection of bioinformatics tools at this portal site.

Find information about tandem repeats in proteins that carry fundamental biological functions and are related to a number of human diseases.

Find information about functional residues in alpha-helical and beta-barrel membrane proteins.

Database of domains and motifs with conservative location in transmembrane proteins.

Search for highly conserved and specific protein sequence motifs.

Predict functional sites in protein sequence alignments use different methodologies.

Find de novo protein motifs from chromatin immunoprecipitation data.

Scan query structures for functional sites in both proteins and nucleic acids.

Analyze quantitative structure-activity relationship of related protein families.

Search for ungapped alignments of highly conserved regions among a protein family or superfamily.

An expert system for predicting ligand-binding residues in protein structures.

Automatically identify spatially interacting motifs among distantly related proteins sharing similar folds and possessing common ancestral lineage.

]]> Neel https://bioinformaticsonline.com/bookmarks/view/27691/histonedb-20-%E2%80%93-with-variants Fri, 03 Jun 2016 05:06:20 -0500 https://bioinformaticsonline.com/bookmarks/view/27691/histonedb-20-%E2%80%93-with-variants <![CDATA[HistoneDB 2.0 – with variants]]> This histone database can be used to explore the diversity of histone proteins and their sequence variants in many organisms. The resource was established to better understand how sequence variation may affect functional and structural features of nucleosomes. To get started, select a histone type to explore its variants.

More at http://www.ncbi.nlm.nih.gov/projects/HistoneDB2.0/index.fcgi/browse/

Address of the bookmark: http://www.ncbi.nlm.nih.gov/projects/HistoneDB2.0/index.fcgi/browse/

]]> Anjana https://bioinformaticsonline.com/researchlabs/view/17501/nieduszynski-group Fri, 26 Sep 2014 19:35:06 -0500 <![CDATA[Nieduszynski Group]]> Complete, accurate replication of the genome is essential for life. All chromosomes in eukaryotic cells must be duplicated and then segregated to daughter cells to ensure genetic integrity and produce the large number of cells that make up a multicellular organism. We are using genetic, genomic and computational methods to understand how chromosome replication is regulated to ensure genome stability. By focusing on the basic biology that underpins cell growth and division we aim to provide new insights that may help our understanding of diseases such as cancer and congenital disorders.

More http://www.nieduszynski.org/index.php
http://www.path.ox.ac.uk/research/cell-biology-and-pathology/conrad-nieduszynski-group

]]> https://bioinformaticsonline.com/bookmarks/view/20504/chromevol Sun, 25 Jan 2015 00:33:11 -0600 https://bioinformaticsonline.com/bookmarks/view/20504/chromevol <![CDATA[ChromEvol]]> Chromosome number is a remarkably dynamic feature of eukaryotic evolution. Chromosome numbers can change by a duplication of the whole genome (a process termed polyploidy), or by single chromosome changes (ascending dysploidy via, e.g., chromosome fission or descending dysploidy via, e.g., chromosome fusion).
Of the various mechanisms of chromosome number change, polyploidy has received significant attention because of the impact such an event may have on the organism.
ChromEvol implements a series of likelihood models for the evolution of chromosome numbers. By comparing the fit of the different models to biological data, it may be possible to gain insight regarding the pathways by which the evolution of chromosome number proceeds. For each model, the program estimates the rates for the possible transitions assumed by the model, infers the set of ancestral chromosome numbers, and estimates the location along the tree for which polyploidy events (and other chromosome number changes) occurred. For further methodological details, see the publications and manual on the Downloads page.

http://www.tau.ac.il/~itaymay/cp/chromEvol/about.html

Address of the bookmark: http://www.tau.ac.il/~itaymay/cp/chromEvol/downloads.html

]]> Jit https://bioinformaticsonline.com/bookmarks/view/26252/recombination-detection-tool Tue, 02 Feb 2016 10:11:14 -0600 https://bioinformaticsonline.com/bookmarks/view/26252/recombination-detection-tool <![CDATA[Recombination detection tool]]> A program to detect recombination hotspots using population genetic data.

More at https://github.com/auton1/LDhot

Address of the bookmark: https://github.com/auton1/LDhot

]]> Jit https://bioinformaticsonline.com/bookmarks/view/27092/medea-comparative-genomic-visualization-with-adobe-flash Tue, 26 Apr 2016 12:15:16 -0500 https://bioinformaticsonline.com/bookmarks/view/27092/medea-comparative-genomic-visualization-with-adobe-flash <![CDATA[MEDEA: Comparative Genomic Visualization with Adobe Flash]]> As the number of sequence and annotated genomes grows larger, the need to understand, compare, and contrast the data becomes increasingly important. Using the power of the human visual system to detect trends and spot outliers is necessary in such large and complex data sets.

More at http://www.broadinstitute.org/annotation/medea/

Address of the bookmark: http://www.broadinstitute.org/annotation/medea/

]]> Jit https://bioinformaticsonline.com/bookmarks/view/29284/genebreak-a-tool-to-systematically-identify-genes-recurrently-affected-by-the-genomic-location-of-chromosomal-cna-associated-breaks-by-a-genome-wide-approach Sat, 01 Oct 2016 15:15:29 -0500 https://bioinformaticsonline.com/bookmarks/view/29284/genebreak-a-tool-to-systematically-identify-genes-recurrently-affected-by-the-genomic-location-of-chromosomal-cna-associated-breaks-by-a-genome-wide-approach <![CDATA[GeneBreak: a tool to systematically identify genes recurrently affected by the genomic location of chromosomal CNA-associated breaks by a genome-wide approach]]> Development of cancer is driven by somatic alterations, including numerical and structural chromosomal aberrations. Currently, several computational methods are available and are widely applied to detect numerical copy number aberrations (CNAs) of chromosomal segments in tumor genomes. However, there is lack of computational methods that systematically detect structural chromosomal aberrations by virtue of the genomic location of CNA-associated chromosomal breaks and identify genes that appear non-randomly affected by chromosomal breakpoints across (large) series of tumor samples. ‘GeneBreak’ is developed to systematically identify genes recurrently affected by the genomic location of chromosomal CNA-associated breaks by a genome-wide approach, which can be applied to DNA copy number data obtained by array-Comparative Genomic Hybridization (CGH) or by (low-pass) whole genome sequencing (WGS). First, ‘GeneBreak’ collects the genomic locations of chromosomal CNA-associated breaks that were previously pinpointed by the segmentation algorithm that was applied to obtain CNA profiles. Next, a tailored annotation approach for breakpoint-to-gene mapping is implemented. Finally, dedicated cohort-based statistics is incorporated with correction for covariates that influence the probability to be a breakpoint gene. In addition, multiple testing correction is integrated to reveal recurrent breakpoint events. This easy-to-use algorithm, ‘GeneBreak’, is implemented in R (www.cran.r-project.org) and is available from Bioconductor (www.bioconductor.org/packages/release/bioc/html/GeneBreak.html).

 

Address of the bookmark: http://www.bioconductor.org/packages/release/bioc/html/GeneBreak.html

]]> Jit https://bioinformaticsonline.com/blog/view/30104/structural-variation-the-hidden-genomic-treasure Sat, 10 Dec 2016 16:19:09 -0600 https://bioinformaticsonline.com/blog/view/30104/structural-variation-the-hidden-genomic-treasure <![CDATA[Structural variation: the hidden genomic treasure]]> Genome re-sequencing projects have revealed substantial amounts of genetic variation between individuals extending beyond single nucleotide polymorphisms (SNPs) and short indels. Structural Variations (SVs) and Copy Number Variations (CNVs) are a major source of genomic variation. However, compared to SNPs, accurate detection, genotyping and understanding of CNVs is lagging behind due to much greater analytical challenges related to SV/CNV detection and analysis. In our lab we analyse SVs/CNVs using high-throughput sequencing and different analytical approaches. The most‐studied structural variants are copy number variations (CNVs) which can be generated by several different mechanisms including non‐allelic homologous recombination, non‐homologous end‐joining and deoxyribonucleic acid (DNA) replication‐related fork stalling and template switching. CNVs are closely related to segmental duplications (SDs): SDs can stimulate the formation of CNVs and themselves started out as CNVs, but became fixed in a species. Structural variation can be neutral but has also influenced our phenotypic evolution, for example our susceptibility to disease and our ability to digest certain types of food. Our understanding of the extent of structural variation is increasing rapidly, but it will be much more difficult to understand its phenotypic consequences. 

image

Structural variants (SVs) such as deletions, insertions, duplications, inversions and translocations litter genomes and are often associated with gene expression changes and severe phenotypes (ie. genetic diseases in humans). Recent studies on the functional aspects of different types of SVs have unveiled several cases of adaptive evolution. For example, inversions have been associated with ecological adaptations and may facilitate speciation. Due to their prevalent nature, SVs arguably have a large impact on genome evolution and should not be neglected when studying the genetics of adaptation and speciation. SVs were classically defined as chromosomal rearrangements larger than 1kb, but due to a higher resolution of new detection methods, smaller variants (between 50 and 1000 base pairs) can now be accurately assessed. Besides various methods of detection in next generation sequencing data (paired end mapping, split reads, and depth of coverage), array-based approaches have proven to be particularly useful for detecting copy number variations (CNVs). These technologies have enabled researchers to catalog a wide spectrum of SVs in many organisms and infer the effects of selection shaping their evolutionary trajectories.

Structure variation sequencing signature (Source: NatRev Genetics)

image

Related tools, databases and publications are listed below. If you know any interesing papers, please let us know in comment section:


Key concepts

Structural variation includes balanced variants such as inversions and translocations, and unbalanced ones such as duplications and deletions (copy number variations or CNVs).

Structural variants can arise by several mechanisms, including nonallelic homologous recombination (NAHR), nonhomologous end‐joining (NHEJ) and DNA replication‐based fork stalling and template switching (FoSTeS).

CNV is closely linked to segmental duplication, but is not exactly the same. Segmental duplications can stimulate CNV formation by NAHR, and themselves arise from CNVs that have become fixed.

Segmental duplications did not appear uniformly during the evolution of the Great Ape species, but rather during a burst of activity around the time of the divergence of gorilla from the human/chimpanzee ancestor.

Duplicated genes play a critical role in the evolution of a genome as they act as ‘spare parts’ than can evolve to perform new or more specialized functions.

Effects of structural variation on gene expression can be identified but only a few examples of the consequences for species biology have been documented.

Tools

CNVnatora tool for CNV discovery and genotyping from depth of read mapping.2011a,2011b

AGEa tools that implements an algorithm for optimal alignment of sequences with SVs.2011

BreakSeqa pipeline for annotation, classification and analysis of SVs at single nucleotide resolution.2010

PEMera computational and simulation framework for discovering SVs by paired-end read mapping.2009,2007

GASV https://code.google.com/archive/p/gasv/

PAIROSCOPE http://pairoscope.sourceforge.net/

SVDetect http://svdetect.sourceforge.net/Site/Home.html

BreakPtr, discovery of unbalanced structural variants (copy-number variants) with tiling microarrays Link 

R Package https://www.bioconductor.org/help/course-materials/2010/EMBL2010/Practical-4-StructuralVariants.pdf

BreakSeq, structural variant genotyping using split reads Link 

CopySeq, genotyping of unbalanced structural variants (copy-number variants) using read-depth Link 

DELLY2, integrated structural variant discovery, genotyping and visualization in deep sequencing data Link 

PEMer, structural variant discovery in 454 sequencing data by paired-end mapping Link 

TIGER, transduction inference in germline genomes using short read data Link 

MANTA https://github.com/Illumina/manta

SV-Bay https://github.com/InstitutCurie/SV-Bay

BreakDancer http://breakdancer.sourceforge.net/

Variation Hunter http://compbio.cs.sfu.ca/software-variation-hunter

Lumpy https://github.com/arq5x/lumpy-sv

ForestSV http://sebatlab.ucsd.edu/index.php/software-data 

PBSuites for long reads https://sourceforge.net/projects/pb-jelly/

Visualization

The SV visualization tool: http://genomesavant.com/savant/

InGAP-SV (http://ingap.sourceforge.net/) that is nice tools for both detection and visualisation of severals kind of structural variations (Large insertions, translocation, deletion, inversions....) 

Tools table: http://www.nature.com/nbt/journal/v29/n8/fig_tab/nbt.1904_T2.html

Variation Viewer https://www.ncbi.nlm.nih.gov/variation/view/

Papers

http://www.nature.com/nmeth/journal/v9/n2/full/nmeth.1858.html

http://journal.frontiersin.org/researchtopic/1412/structural-variations-in-genomes-ecological-and-evolutionary-implications

http://www.mi.fu-berlin.de/wiki/pub/ABI/GenomicsLecture10Materials/structural-variation.pdf

http://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-015-1479-3

https://www.ncbi.nlm.nih.gov/dbvar/content/overview/

http://www.nature.com/subjects/structural-variation

https://eichlerlab.gs.washington.edu/news/NatMeth_Feb2012.pdf

https://www.ncbi.nlm.nih.gov/pubmed/19477992 ***

https://www.ncbi.nlm.nih.gov/pubmed/22452995

http://biorxiv.org/content/early/2016/09/06/073833

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479793/

http://www.nature.com/articles/srep18501

http://www.genetics.org/content/202/1/351

http://www.cs.cmu.edu/~sssykim/teaching/s13/slides/Lecture_SVI.pdf

https://www.omicsonline.org/open-access/structural-variation-detection-from-next-generation-sequencing-2469-9853-S1-007.php?aid=69055

http://schatzlab.cshl.edu/presentations/2016/2016.01.12.PAG.Structural%20Variations.pdf

 

]]> Jit https://bioinformaticsonline.com/bookmarks/view/30901/ideoplot Mon, 13 Feb 2017 09:47:32 -0600 https://bioinformaticsonline.com/bookmarks/view/30901/ideoplot <![CDATA[Ideoplot]]> Simple ideogram plotting and annotation in R.

Basic usage:

Rscript Ideoplot.R --heatmap hm.bed --annotate annotations.bed --out ideogram.pdf
-or-
Rscript Ideoplot.R --annotate annotations.bed

Options
  --ideobed, i      A bed file of reference contig lengths/chromosome names
  --heatmap, -h     Fill chromosomes with normalized heatmap
                   (described below)
  --annotate, -a    Add character annotations.
  --out, -o         PDF output name.
  --stripes, -s     Specify a file containing the layout of the
                    annotations (description below)
  --bars, -b        Add track annotations
  --reference, -f   Either hg19, or hg38
  --topdown, r      Flag, when set, flips the orientation (P arms
                    drawn on top).

Address of the bookmark: https://github.com/mchaisso/Ideoplot

]]> Shruti Paniwala