BOL: Related items

Basics of BLAST Programs !

BioStar — Fri, 26 Jul 2024 06:04:26 -0500

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.

ENCODE3: A collection of research articles and related content describing the Encyclopedia of DNA Elements, its datasets and tools.

Shruti Paniwala — Sat, 08 Aug 2020 08:25:21 -0500

How cells, tissues and organisms interpret the information encoded in the genome has vital implications for our understanding of development, health and disease. Launched in 2003, the ENCyclopedia Of DNA Elements (ENCODE) project has the aim of mapping the functional elements in the human genome (later expanded to include model organisms).

During the first phase of ENCODE, published in 2007, microarray-based technologies were used to detect regions associated with transcription factors, certain histone modifications and open chromatin within a pre-specified 1% of the human genome.

ENCODE’s second phase saw a switch to sequencing-based technologies, the addition of new assay types and the analysis of functional elements genome-wide, described in a collection of research articles in 2012.

The Encyclopedia paper of ENCODE 3, published in Nature, gives an overview of the various assays that were performed in human and mouse cell lines and tissues and describes a Registry of human and mouse candidate cis-regulatory elements (cCREs).

More at https://www.nature.com/immersive/d42859-020-00027-2/index.html

DNA RNA MEME

Neel — Thu, 28 Jan 2021 11:23:14 -0600

Explain the DNA and RNA with picture ...

DnaSP: DNA Sequence Polymorphism, is a software package for the analysis of DNA polymorphisms

Neel — Wed, 25 Nov 2020 19:51:38 -0600

DnaSP, DNA Sequence Polymorphism, is a software package for the analysis of DNA polymorphisms using data from a single locus (a multiple sequence aligned -MSA data), or from several loci (a Multiple-MSA data, such as formats generated by some assembler RAD-seq software). DnaSP can estimate several measures of DNA sequence variation within and between populations in noncoding, synonymous or nonsynonymous sites, or in various sorts of codon positions), as well as linkage disequilibrium, recombination, gene flow and gene conversion parameters.

Address of the bookmark: http://www.ub.edu/dnasp/

List of motif discovery tools !

Neel — Tue, 20 Nov 2018 03:54:26 -0600

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:

2Dsweep -- protein annotation by secondary structure elements

Perform secondary structure predictions on protein sequences.

3D-footprint -- database of DNA-binding protein structures

Find binding specificity information about DNA-protein complexes.

3D-footprint: DNA-binding protein database

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

3D-partner -- a web server to infer interacting partners and binding models

Predict interacting partners and binding models.

3MOTIF -- a protein structure visualization system for conserved sequence motifs

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

AFAWE -- Automatic functional annotation in a distributed Web Services Environment

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

ANCHOR -- Prediction of Protein Binding Regions in Disordered Proteins

Find information about protein binding.

ANNIE -- ANNotation and Interpretation Environment for Protein Sequences

Use to predict function from de novo protein sequences.

Active Sequences Collection (ASC) database -- A new tool to assign functions to protein sequences

Search for short active protein sequences with demonstrated biological activities.

Blocks -- Ungapped segments in conserved protein sequences

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

CASTp -- computed atlas of surface topography of proteins with structural and topographical mapping of functionally annotated residues

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

CSA -- The Catalytic Site Atlas

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

ConFunc -- Conserved residue Protein Function Prediction Server

Predict protein function using Gene Ontology.

ConSurf-DB -- evolutionary conservation profiles of protein structures database

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

DBAli -- A Database of Structure Alignments

Mine the protein structure space.

DILIMOT -- discovery of linear motifs in proteins

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

Dasty2 -- an Ajax protein DAS client

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

DomainSweep -- protein annotation by domain analysis

Identify the domain architecture within a protein sequence.

E1DS -- catalytic site prediction based on 1D signatures of concurrent conservation

Predict enzyme catalytic site.

ELM -- Eukarotic Linear Motif Resource

Predict functional sites in eukaryotic proteins.

EXPASY Proteome Tools Collection

Use a collection of tools for protein analyses.

EXPASY-Findmod

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

EzCatDB -- the Enzyme Catalytic-mechanism Database

Search for information related to the catalytic mechanisms of enzymes.

FFPred -- feature-based function prediction

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

FingerPRINT Scan

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

FireDB -- a database of functionally important residues from proteins of known structure

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

Frog2 -- a FRee Online druG 3D conformation generator

Produce 3D conformations of small drug compounds.

HGPD -- Human Gene and Protein Database

A database presenting experiment-based results in human proteomics.

HHsenser -- exhaustive transitive profile search using HMMx96HMM comparison

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

HotSpot Wizard -- Substrate Specificity Hot Spot Identification web server

Design protein mutations in site-directed mutagenesis.

INTREPID -- INformation-theoretic TREe traversal for Protein functional site IDentification

Use for protein functional site identification.

Integrating protein annotation resources through the Distributed Annotation System

Annotate protein using this integrated annotation resource.

InterProScan -- protein domains identifier

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

KFC -- Knowledge-based FADE and Contacts

Interactive forecasting of protein interaction hot spots.

MAGIIC-PRO -- detecting functional signatures by efficient discovery of long patterns in protein sequences

Discover long patterns in protein sequences.

MALISAM -- Manual ALIgnments for Structurally Analogous Motifs

Database containing pairs of structural analogs and their alignments.

MEME -- discovering and analyzing DNA and protein sequence motifs

Find sequence patterns in DNA and protein sequences.

MODPROPEP -- a program for knowledge-based modeling of protein-peptide complexes

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

MeMo -- a web tool for prediction of protein methylation modifications

Predict protein methylation sites.

MegaMotifBase -- a database of structural motifs in protein families and superfamilies

Find structural segments or motifs for protein structures.

Minimotif Miner -- a tool for investigating protein function

Find motifs in a protein sequence.

Motif3D -- Relating protein sequence motifs to 3D structure

Visualize protein sequence motifs on the 3D protein structures.

MotifScan

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

MultiBind -- Multiple Alignment of Protein Binding Sites

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

NMT -- The MYR Predictor

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

NetNGlyc -- N-Glycosylation sites prediction tool

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

NetOGly 3.1 -- O-glycosylation sites prediction tool

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

NetPhos 2.0 -- Phosphorylation sites predictions

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

NetPhosK 1.0 Server -- kinase specific eukaryotic protein phosphorylation sites prediction tool

Find possible kinase specific phosphorylation sites in eukaryotic proteins.

NetworKIN -- a resource for exploring cellular phosphorylation networks

NeuroPred -- a tool to predict cleavage sites in neuropeptide precursors and provide the masses of the resulting peptides

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

Non-Redundant Patent Sequences - Patented Sequence Database

Find information about patented nucleotide and protein sequences.

O-GLYCBASE

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

PANDORA -- Protein ANnotation Diagram ORiented Analysis

Find information about protein sequence annotations.

PAR-3D -- Protein Active site Residue - 3D structural motif

A server to predict protein active site residues.

PDBSite -- a database of the 3D structure of protein functional sites

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

PDBSiteScan -- A program for searching for active, binding and posttranslational modification sites in the 3D structures of proteins

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

PEDANT -- Protein Extraction, Description and ANalysis Tool

Conduct genome wide functional and structural analysis.

PHOSIDA -- Phosphorylation site database

Search for phosphorylation data of any protein of interest.

PHOSPHORYLATION SITE DATABASE

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

PNU -- Protein Naming Utility

Determine correct names for proteins.

POODLE-S -- Predicition Of Order and Disorder by machine LEarning

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

PPISearch -- Protein-Protein Interaction Search

Find homologous protein-protein interactions across multiple species.

PPSearch

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

PRIDB -- Protein-RNA Interface DataBase

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

PRINTS and its automatic supplement, prePRINTS -- A compendium of protein fingerprints

Search for protein fingerprints.

PROSITE

Identify protein families and domains for a given protein sequence.

PRRDB -- Pattern Recognition Receptor Database

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

PatMatch -- a program for finding patterns in peptide and nucleotide sequences

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

PepCyber:P~PEP -- a database of human protein protein interactions mediated by phosphoprotein-binding domains

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

PeptideCutter -- protein cleavage sites prediction tool

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

Phobius -- A combined transmembrane topology and signal peptide predictor

Predict combined transmembrane topology and signal peptides.

Phospho.ELM -- a database of phosphorylation sites

Search for eukaryotic phosphorylation sites.

Phospho3D -- a database of three-dimensional structures of protein phosphorylation sites

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

PhosphoSite -- A bioinformatics resource dedicated to physiological protein phosphorylation.

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

PolyQ -- Polyglutamine Database

Find information about polyglutamine (polyQ) repeats.

Pratt Protein motif and pattern discovery

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

PrediSi -- Prediction of Signal Peptides and their Cleavage Positions

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

ProFunc -- a server for predicting protein function from 3D structure

Predict protein functions based on known structures.

ProMateus--an open research approach to protein-binding sites analysis

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

ProTeus -- identifying signatures in protein termini

Identify short linear signatures in protein termini.

ProtSweep -- protein annotation by homology

Analyze and identify newly obtained protein sequences.

Protemot -- prediction of protein binding sites with automatically extracted geometrical templates

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

QuasiMotiFinder -- protein annotation by searching for evolutionarily conserved motif-like patterns

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

RNABindR -- software for prediction of RNA binding residues in proteins

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

SCANMOT -- searching for similar sequences using a simultaneous scan of multiple sequence motifs

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

SDPpred -- A Tool for Prediction of Amino Acid Residues that Determine Differences in Functional Specificity of Homologous Proteins

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

SDR -- Specificity Determining Residues Database

Predict specificity-determining residues in protein families.

SLiMDisc -- Short, Linear Motif Discovery

Find shared motifs in proteins with a common attribute.

SUMOsp -- a web server for sumoylation site prediction

Conduct in silico sumoylation sites prediction.

SWAKK -- a web server for detecting positive selection in proteins using a sliding window substitution rate analysis

Detect protein sequence section under positive evolution selection.

ScanProsite

Search for motifs and patterns within protein sequences.

ScanProsite -- detection of PROSITE signature matches and ProRule-associated functional and structural residues in proteins

Detect patterns, profiles and motifs in a protein sequence.

ScanSite 2.0 -- Proteome-wide prediction of cell signaling interactions using short sequence motifs

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.

SePreSA -- SErver for the PREdiction of populations susceptible to Serious Adverse drug reaction

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

Sequence Motif Search

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

Signal-3L -- A 3-layer approach for predicting signal peptides

Predict signal peptides.

SignalP -- Machine learning approaches to the prediction of signal peptides, their cleavage sites, and other protein sorting signals

Predict signal peptides and their cleavage sites.

Sulfinator -- tyrosine sulfation sites prediction tool

Predict the presence of tyrosine sulfation sites in protein sequences

SuperSite -- Ligand Binding Site Database

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

Swiss EMBnet node web server

Use a collection of bioinformatics tools at this portal site.

T-REKS -- identification of Tandem REpeats in sequences with a K-meanS based algorithm

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

TMFunction -- The Functional Database of Membrane Proteins

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

TOPDOM -- Conservatively Located Domains and Motifs in Transmembrane Proteins

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

The EMOTIF database

Search for highly conserved and specific protein sequence motifs.

TreeDet -- Predicting Functional Residues in Protein Sequence Alignments

Predict functional sites in protein sequence alignments use different methodologies.

W-ChIPMotifs -- ChIP-based protein Motif discovery web server

Find de novo protein motifs from chromatin immunoprecipitation data.

WebFEATURE -- an interactive web tool for identifying and visualizing functional sites on macromolecular structures

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

WebProAnalyst -- an interactive tool for analysis of quantitative structurex96activity relationships in protein families

Analyze quantitative structure-activity relationship of related protein families.

eBLOCKs -- enumerating conserved protein blocks to achieve maximal sensitivity and specificity

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

eF-seek -- prediction of the functional sites of proteins by searching for similar electrostatic potential and molecular surface shape

Predict the functional sites of proteins.

firestar -- prediction of functionally important residues using structural templates and alignment reliability

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

iMOTdb -- a comprehensive collection of spatially interacting motifs in proteins

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

List of generic simulation software/tools/resource with brief description and homepage !!!

Jit — Mon, 10 Feb 2014 05:57:29 -0600

List of generic simulation software/tools/resource with brief description and homepage

ALF
A Simulation Framework for Genome Evolution
http://www.cbrg.ethz.ch/alf

Bayesian Serial SimCoal
Bayesian Serial SimCoal, (BayeSSC) is a modification of SIMCOAL 1.0, a program written by Laurent Excoffier, John Novembre, and Stefan Schneider.
http://www.stanford.edu/group/hadlylab/ssc/index.html

BEERS
BEERS was designed to benchmark RNA-Seq alignment algorithms and also algorithms that aim to reconstruct different isoforms and alternate splicing from RNA-Seq data
http://cbil.upenn.edu/beers/

BOTTLENECK
Bottleneck is a program for detecting recent effective population size reductions from allele data frequencies
http://www.ensam.inra.fr/urlb/bottleneck/bottleneck.html

BottleSim
BottleSim is a computer simulation program for simulating the process of population bottlenecks
http://chkuo.name/software/bottlesim.html

CASS
Protein Sequence Simulation
http://www.wyomingbioinformatics.org/liberlesgroup/cass/

CDPOP
CDPOP is a landscape genetics tool for simulating the emergence of spatial genetic structure in populations resulting from specified landscape processes governing organism movement behavior.
http://cel.dbs.umt.edu/cdpop

CoalFace
CoalFace is a simulation of the coalescent process with the visual display of gene genealogies.
http://web.up.ac.za/default.asp?ipkcategoryid=3283

CoaSim
CoaSim is a tool for simulating the coalescent process with recombination and geneconversion under various demographic models.
http://users-birc.au.dk/mailund/coasim/index.html

cosi
The cosi package is written in C and is available as a tar file.
http://www.broadinstitute.org/~sfs/cosi/

CS-PSeq-Gen
A program to simulate the evolution of protein sequences under the constraints of the information of a particular reconstructed phylogeny
http://bioserv.rpbs.univ-paris-diderot.fr/software/cs-pseq-gen.html

DAWG
An application designed to simulate the evolution of recombinant DNA sequences in continuous time
http://scit.us/projects/dawg

Easypop
EASYPOP is an individual based model intended to simulate datasets under a very broad range of conditions
http://www.unil.ch/dee/page36926_fr.html

EggLib
EggLib is a C++/Python library and program package for evolutionary genetics and genomics.
http://egglib.sourceforge.net/

EvolSimulator
A simulation test bed for hypotheses of genome evolution
http://acb.qfab.org/acb/evolsim/

EvolveAGene
A realistic coding sequence simulation program that separates mutation from selection and allows the user to set selection conditions
http://bellinghamresearchinstitute.com/software/index.html

fastsimcoal
A continuous-¬‐time coalescent simulator of genomic diversity under arbitrarily complex evolutionary scenarios
http://cmpg.unibe.ch/software/fastsimcoal/

FastSLINK
Simulation of Marker and Phenotype Data in Pedigrees
http://watson.hgen.pitt.edu/

FFPopSim
C++/Python library for population genetics.
http://webdav.tuebingen.mpg.de/ffpopsim/

FLUX SIMULATOR
The Flux Simulator aims at providing a deterministic in silico reproduction of the experimental pipelines for RNA-Seq, employing a minimal set of parameters.
http://flux.sammeth.net/simulator.html

ForSim
ForSim: A Forward Evolutionary Computer Simulation
http://www.anthro.psu.edu/weiss_lab/research.shtml

ForwSim
The program given below is based on the algorithm described in Padhukasahasram et al. 2008 to simulate genetic drift in a standard Wright-Fisher process.
http://badri-populationgeneticsimulators.blogspot.com/

FPG
Forward Population Genetic simulation
http://genfaculty.rutgers.edu/hey/software#fpg

FREGENE
FREGENE is a C++ program that simulates sequence-like data over large genomic regions in large diploid populations.
http://www.ebi.ac.uk/projects/bargen/download/fregen/documentation_html.html

GAMETES
Genetic Architecture Model Emulator for Testing and Evaluating Software: Simulates complex SNP models with pure, strict epistatic interactions with n-loci.
http://sourceforge.net/projects/gametes/?source=navbar

GASP
Genometric Analysis Simulation Program. A software tool for testing and investigating methods in statistical genetics by generating samples of family data based on user specified models.
http://research.nhgri.nih.gov/gasp/

GemSIM
Next generation sequencing read simulator
http://sourceforge.net/projects/gemsim/

GeneArtisan
Simulation of Markers in Case-Control Study Designs
http://www.rannala.org/?page_id=241

GENOME
A rapid coalescent-based whole genome simulator
http://www.sph.umich.edu/csg/liang/genome/

GenomePop2
GenomePop2 is a specialization of the program GenomePop just to manage SNPs under more flexible and useful settings. If you need models with more than 2 alleles please use the GenomePop program version.
http://webs.uvigo.es/acraaj/genomepop2.htm

GenomeSimla
GenomeSIMLA is currently under development- however, we have a beta release that we are asking to be tested
http://chgr.mc.vanderbilt.edu/genomesimla/

GENS2
Simulates interactions among two genetic and one environmental factor and also allows for epistatic interactions.
https://sourceforge.net/projects/gensim/

GWAsimulator
A rapid whole genome simulation program
http://biostat.mc.vanderbilt.edu/wiki/main/gwasimulator

HAP-SAMPLE
An association simulator for candidate regions or genome scans
http://www.hapsample.org/

HAPGEN
A simulator for the simulation of case control datasets at SNP markers
https://mathgen.stats.ox.ac.uk/genetics_software/hapgen/hapgen2.html

HapSim
A simulation tool for generating haplotype data with pre-specified allele frequencies and LD coefficients
http://cran.r-project.org/web/packages/hapsim/index.html

HAPSIMU
A program that simulates heterogeneous populations with various known and controllable structures under the continuous migration model or the discrete model
http://l.web.umkc.edu/liujian/

IBDsim
IBDSim is a computer package for the simulation of genotypic data under general isolation by distance models.
http://raphael.leblois.free.fr/

indel-Seq-Gen
A biological sequence simulation program that simulates highly divergent DNA sequences and protein superfamilies
http://bioinfolab.unl.edu/~cstrope/isg/

Indelible
A powerful and flexible simulator of biological evolution
http://abacus.gene.ucl.ac.uk/software/indelible/

invertFREGENE
InvertFREGENE is a forward-in-time simulator of inversions in population genetic data
http://www.ebi.ac.uk/projects/bargen/

kernalPop
A spatially explicit population genetic simulation engine
http://cran.r-project.org/src/contrib/archive/kernelpop/

MaCS
Markovian Coalescent Simulator
http://www-hsc.usc.edu/~garykche/

Mason
A package for the simulation of nucleotide data.
http://www.seqan.de/projects/mason/

mbs
modifying Hudson's ms software to generate samples of DNA sequences with a biallelic site under selection
http://www.sendou.soken.ac.jp/esb/innan/innanlab/software.html

Mendel's Accountant
Mendel's Accountant (MENDEL) is an advanced numerical simulation program for modeling genetic change over time and was developed collaboratively by Sanford, Baumgardner, Brewer, Gibson and ReMine
http://mendelsaccount.sourceforge.net/

MetaSim
A tool to generate collections of synthetic reads that reflect the diverse taxonomical composition of typical metagenome data sets
http://ab.inf.uni-tuebingen.de/software/metasim/

mlcoalsim
Multilocus Coalescent Simulations
http://code.google.com/p/mlcoalsim-v1/

ms
The purpose of this program is to allow one to investigate the statistical properties of such samples, to evaluate estimators or statistical tests, and generally to aid in the interpretation of polymorphism data sets.
http://home.uchicago.edu/~rhudson1/source/mksamples.html

msHOT
The purpose of this program is to allow one to investigate the statistical properties of such samples, to evaluate estimators or statistical tests, and generally to aid in the interpretation of polymorphism data sets.
http://home.uchicago.edu/~rhudson1/

msms
A coalescent Simlation tool with selection.
http://www.mabs.at/ewing/msms/index.shtml

MySSP
A program for the simulation of DNA sequence evolution across a phylogenetic tree
http://www.rosenberglab.net/software.php

Nemo
A forward-time, individual-based, genetically explicit, and stochastic simulation program designed to study the evolution of genetic markers, life history traits, and phenotypic traits in a flexible (meta-)population framework.
http://nemo2.sourceforge.net/

NetRecodon
Coalescent simulation of coding DNA sequences with recombination (inter and intracodon), migration and demography
http://code.google.com/p/netrecodon/

PEDAGOG
Software for simulating eco-evolutionary population dynamics
https://bcrc.bio.umass.edu/pedigreesoftware/node/5

phenosim
A tool to add phenotypes to simulated genotypes
http://evoplant.uni-hohenheim.de/doku.php?id=software:software

PhyloSim
An R package for the Monte Carlo simulation of sequence evolution
http://bit.ly/rlsim-git

pIRS
Profile-based Illumina pair-end reads simulator
https://code.google.com/p/pirs/

ProteinEvolver
Simulation of protein evolution along phylogenies under structure-based substitution models
http://code.google.com/p/proteinevolver/

QMSim
QTL and Marker Simulator
http://www.aps.uoguelph.ca/~msargol/qmsim/

quantiNEMO
An individual-based program for the analysis of quantitative traits with explicit genetic architecture potentially under selection in a structured population
http://www2.unil.ch/popgen/softwares/quantinemo/

RECOAL
Simulates new haplotype data from a reference population of haplotypes.
ftp://popgen.usc.edu/

Recodon
Coalescent simulation of coding DNA sequences with recombination, migration and demography
http://code.google.com/p/recodon/

rlsim
A package for simulating RNA-seq library preparation with parameter estimation
http://bit.ly/rlsim-git

Rmetasim
Rmetasim is a front-end for the metasim engine that is implemented as a package that runs in the statistical computing environment R
http://linum.cofc.edu/software.html#metasim

RNA Seq Simulator
RSS takes SAM alignment files from RNA-Seq data and simulates over dispersed, multiple replica, differential, non-stranded RNA-Seq datasets.
http://useq.sourceforge.net/cmdlnmenus.html#rnaseqsimulator

Rose
Random model of sequence evolution
http://bibiserv.techfak.uni-bielefeld.de/rose/

SelSim
SelSim is a program for Monte Carlo simulation of DNA polymorphism data for a recom- bining region within which a single bi-allelic site has experienced natural selection
http://www.well.ox.ac.uk/~spencer/selsim/

Seq-Gen
An application for the Monte Carlo simulation of molecular sequence evolution along phylogenetic trees.
http://tree.bio.ed.ac.uk/software/seqgen/

SEQPower
Statistical power analysis for sequence-based association studies
http://bioinformatics.org/spower/

SeqSIMLA
SeqSIMLA can simulate sequence data with user-specified disease and quantitative trait models. Family or unrelated case-control data can be simulated.
http://seqsimla.sourceforge.net/

Serial NetEvolve
A flexible utility for generating serially-sampled sequences along a tree or recombinant network
http://biorg.cis.fiu.edu/sne/

SFS_CODE
SFS_CODE can perform forward population genetic simulations under a general Wright-Fisher model with arbitrary migration, demographic, selective, and mutational effects.
http://sfscode.sourceforge.net/sfs_code/index/index.html

SIBSIM
Quantitative phenotype simulation in extended pedigrees
http://sourceforge.net/projects/sibsim/

SIMCOAL2
A coalescent program for the simulation of complex recombination patterns over large genomic regions under various demographic models
http://cmpg.unibe.ch/software/simcoal2/

SimCopy
An R package simulating the evolution of copy number profiles along a tree.
http://bit.ly/simcopy

SIMLA
SIMLA is a SIMuLAtion program that generates data sets of families for use in Linkage and Association studies.
http://www.chg.duke.edu/research/simla.html

SimPed
A Simulation Program to Generate Haplotype and Genotype Data for Pedigree Structures
http://www.hgsc.bcm.tmc.edu/content/simped

Simprot
A program to simulate protein evolution by substitution, insertion and deletion
http://www.uhnresearch.ca/labs/tillier/software.htm#3

SimRare
Rare variant simulation and analysis tool
http://code.google.com/p/simrare/

simuGWAS
A forward-time simulator that simulates realistic samples for genome-wide association studies.
http://simupop.sourceforge.net/cookbook/simucomplexdisease

simuPOP
simuPOP is a general-purpose individual-based forward-time population genetics simulation environment.
http://simupop.sourceforge.net/

SISSI
A software tool to generate data of related sequences along a given phylogeny, taking into account user defined system of neighbourhoods and instantaneous rate matrices.
http://www.cibiv.at/software/sissi/

SNPsim
Coalescent simulation of hotspot recombination
http://code.google.com/p/phylosoftware/

SPIP
SPIP simulates the transmission of genes from parents to offspring in a population having demographic structure defined by the user
http://swfsc.noaa.gov/textblock.aspx?division=fed&id=3434

Splatche
Spatial and Temporal Coalescences in Heterogeneous Environment
http://www.splatche.com/

srv
Simulator of Rare Varaints (srv) is a simulator for the simulation of the introduction and evolution of (rare) genetic variants.
http://simupop.sourceforge.net/cookbook/simurarevariants

SUP
SLINK/FastSLINK utility program
http://mlemire.freeshell.org/software.html

TreesimJ
A flexible, forward-time population genetic simulator
http://code.google.com/p/treesimj/

Vortex
VORTEX is an individual-based simulation model for population viability analysis (PVA).
http://www.vortex9.org/vortex.html

References:

Image www.evolution-of-life.com

www.cancer.gov

Software and Tools to detect structure variation with long reads !!

Archana Malhotra — Wed, 15 Mar 2017 14:31:09 -0500

Uncovering the connection between genetics and heritable diseases requires an approach that looks at all the variant bases and types in a genome. While a PacBio de novo assembly resolves the most novel SV variants. 8-10X PacBio coverage of single genomes or trios reveals triple the SVs detectable by short-read data.

With Single Molecule, Real-Time (SMRT) Sequencing, you can access structural variations having a broad range of sizes, types, and GC content with the ability to:

Uncover missing heritability linked to structural variation
Unambiguously identify genomic context and variant breakpoints at the sequence level to unravel the genetic etiology of disease
Resolve structural variation across the complete size spectrum with basepair resolution

Following are the SV tools, which can assist you to achieve your goal.

Sniffles: Structural variation caller using third generation sequencing

Sniffles is a structural variation caller using third generation sequencing (PacBio or Oxford Nanopore). It detects all types of SVs using evidence from split-read alignments, high-mismatch regions, and coverage analysis. Please note the current version of Sniffles requires sorted output from BWA-MEM (use -M and -x parameter) or NGM-LR with the optional SAM attributes enabled!

More at https://github.com/fritzsedlazeck/Sniffles

MultiBreak-SV: It identifies structural variants from next-generation paired end data, third-generation long read data, or data from a combination of sequencing platforms.

There are two pieces of software in this release: (1) a pre-processor that takes machineformat (.m5) BLASR files, and (2) MultiBreak-SV. For installation and usage instructions, see doc/MultiBreakSV-Manual.txt.

More at https://github.com/raphael-group/multibreak-sv

Parliament: A Structural Variation Tool. Why ask a single sv-detection approach to find every variant when you can have a parliament of tools deciding?

Publication about the algorithm and “…the first long-read characterization of structural variation in a diploid human personal genome…” (HS1011) - “Assessing structural variation in a personal genome—towards a human reference diploid genome”

More at https://sourceforge.net/projects/parliamentsv/

https://www.dnanexus.com/papers/Parliament_Info_Sheet.pdf

PBHoney: the structural variation discovery tool

PBHoney is an implementation of two variant-identification approaches designed to exploit the high mappability of long reads (i.e., greater than 10,000 bp). PBHoney considers both intra-read discordance and soft-clipped tails of long reads to identify structural variants.

Read The Paper http://www.biomedcentral.com/1471-2105/15/180/abstract

More at https://sourceforge.net/projects/pb-jelly/

SMRT-SV: Structural variant and indel caller for PacBio reads

Structural variant (SV) and indel caller for PacBio reads based on methods from Chaisson et al. 2014.

SMRT-SV provides an official software package for tools described in Chaisson et al. 2014 and adds several key features including the following.

Unified variant calling user interface with built-in cluster compute support
Small indel calling (2-49 bp)
Improved inversion calling (screenInversions)
Quality metric for SV calls based on number of local assemblies supporting each call
Higher sensitivity for SV calls using tiled local assemblies across the entire genome instead of "signature" regions
Genotyping of SVs with Illumina paired-end reads from WGS samples

More at https://github.com/EichlerLab/pacbio_variant_caller

IUPAC codes

Neel — Tue, 13 Mar 2018 05:16:05 -0500

IUPAC codes

DNA:

Nucleotide Code: Base:

---------------- -----

A.................Adenine

C.................Cytosine

G.................Guanine

T (or U)..........Thymine (or Uracil)

R.................A or G

Y.................C or T

S.................G or C

W.................A or T

K.................G or T

M.................A or C

B.................C or G or T

D.................A or G or T

H.................A or C or T

V.................A or C or G

N.................any base . or -............gap

Protein:

Amino Acid Code: Three letter Code: Amino Acid:

---------------- ------------------ -----------

A.................Ala.................Alanine

B.................Asx.................Aspartic acid or Asparagine

C.................Cys.................Cysteine

D.................Asp.................Aspartic Acid

E.................Glu.................Glutamic Acid

F.................Phe.................Phenylalanine

G.................Gly.................Glycine

H.................His.................Histidine

I.................Ile.................Isoleucine

K.................Lys.................Lysine

L.................Leu.................Leucine

M.................Met.................Methionine

N.................Asn.................Asparagine

P.................Pro.................Proline

Q.................Gln.................Glutamine

R.................Arg.................Arginine

S.................Ser.................Serine

T.................Thr.................Threonine

V.................Val.................Valine

W.................Trp.................Tryptophan

X.................Xaa.................Any amino acid

Y.................Tyr.................Tyrosine

Z.................Glx.................Glutamine or Glutamic acid

Kmer: a suite of tools for DNA sequence analysis

BioStar — Wed, 18 Aug 2021 00:02:54 -0500

More at https://help.rc.ufl.edu/doc/Kmer

This also includes:

A2Amapper: ATAC, Assembly to Assembly Comparision tool:
- Comparative mapping between two genome assemblies (same species), or between two different genomes (cross species).

Sim4db:
- Spliced alignment of cDNA and genomic sequences, from the same (sim4) or related (sim4cc) species. Optimized for high-throughput batched alignment.

LEAFF:
- LEAFF (ahem, Let's Extract Anything From Fasta) is a utility program for working with multi-fasta files. In addition to providing random access to the base level, it includes several analysis functions.

Meryl:
- An out-of-core k-mer counter. The amount of sequence that can be processed for any size k depends only on the amount of free disk space.

Address of the bookmark: https://help.rc.ufl.edu/doc/Kmer

Is reference genome necessary for gene expression study in transcriptome sequencing or for variant discovery in genome sequencing?

Rahul Agarwal — Wed, 17 Jul 2013 15:25:09 -0500

Like in case of plant genomes where nature of genome is too complex and huge in size to accomplish complete de novo assembly by current sequencing technology. What would be alternate solution? Can we live in reference free world?