BOL: Related items

Simons Genome Diversity Project

Jit — Sat, 08 May 2021 21:55:25 -0500

Complete genome sequences from more than one hundred diverse human populations

All genomes in the dataset were sequenced to at least 30x coverage using Illumina technology. The sequencing reads were mapped and genotyped using a customized procedure that was optimized for population genetic analysis. The researchers eliminated bias of alleles toward matching the human genome reference sequence, and determined genotypes on a single-sample basis to avoid preferential calling of genotypes from populations that had more individuals represented.

Address of the bookmark: https://www.simonsfoundation.org/simons-genome-diversity-project/

HISAT2 Index Files Download !

LEGE — Wed, 15 Sep 2021 22:17:49 -0500

Resource for downloading all the HISAT2 related files

Please cite:

Kim, D., Paggi, J.M., Park, C. et al. Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype. Nat Biotechnol 37, 907–915 (2019). https://doi.org/10.1038/s41587-019-0201-4

Address of the bookmark: http://daehwankimlab.github.io/hisat2/download/#h-sapiens

Peregrine & SHIMMER Genome Assembly Toolkit

Abhi — Thu, 16 Dec 2021 02:50:19 -0600

Peregrine is a fast genome assembler for accurate long reads (length > 10kb, accuracy > 99%). It can assemble a human genome from 30x reads within 20 cpu hours from reads to polished consensus. It uses Sparse HIereachical MimiMizER (SHIMMER) for fast read-to-read overlaping without quadratic comparisions used in other OLC assemblers.

Address of the bookmark: https://github.com/cschin/Peregrine

HIV genome database !

Rahul Nayak — Fri, 21 Jan 2022 05:40:15 -0600

HIV resources

https://www.hiv.lanl.gov/components/sequence/HIV/search/search.html

Address of the bookmark: https://www.hiv.lanl.gov/components/sequence/HIV/search/search.html

Human Complete Genome

Shruti Paniwala — Wed, 06 Jul 2022 06:42:55 -0500

Telomere-to-telomere consortium

We have sequenced the CHM13hTERT human cell line with a number of technologies. Human genomic DNA was extracted from the cultured cell line. As the DNA is native, modified bases will be preserved. The data includes 30x PacBio HiFi, 120x coverage of Oxford Nanopore, 70x PacBio CLR, 50x 10X Genomics, as well as BioNano DLS and Arima Genomics HiC. Most raw data is available from this site, with the exception of the PacBio data which was generated by the University of Washington/PacBio and is available from NCBI SRA.

A UCSC browser is available for v2.0 (as well as legacy v1.0 and v1.1 versions). An interactive dotplot visualization of all genomic repeats is also available from resgen.io. Known issues identified in the assembly are tracked at CHM13 issues.

MORE at https://github.com/marbl/CHM13

Address of the bookmark: https://www.science.org/doi/10.1126/science.abj6987

Genome Context Viewer (GCV)

LEGE — Sun, 21 May 2023 19:33:43 -0500

The Genome Context Viewer (GCV) is a web-app that visualizes genomic context data provided by third party services. Specifically, it uses functional annotations as a unit of search and comparison. By adopting a common set of annotations, data-store operators can deploy federated instances of GCV, allowing users to compare genomes from different providers in a single interface.

Address of the bookmark: https://github.com/legumeinfo/gcv

CGView.js is a Circular Genome Viewing tool

LEGE — Wed, 27 Mar 2024 11:16:24 -0500

CGView.js is a Circular Genome Viewing tool for visualizing and interacting with small genomes. This software is an adaptation of the Java program CGView.

CGView.js is the genome viewer of Proksee, an expert system for genome assembly, annotation and visualization.

Features

Circular and linear views of genomes
Capable of drawing genomes up to 10 Mbp with 1000's of features and 100's contigs
Smooth zooming down to the sequence level
Easily generate features and plots directly form the sequence (e.g. ORFs, GC-content and GC-Skew)
Save high resolution PNG maps up to 8000x8000px
Fully documented API for interacting with CGView.js maps

Address of the bookmark: https://js.cgview.ca/

The Role of lncRNA in Bioinformatics: Unlocking the Secrets of the Genome

LEGE — Sat, 07 Dec 2024 02:09:47 -0600

In the intricate dance of molecular biology, long non-coding RNAs (lncRNAs) have emerged as key players, capturing the interest of researchers worldwide. These RNA molecules, once dismissed as "junk," have proven to be vital in the regulation of gene expression, cellular processes, and the progression of diseases. The intersection of lncRNA studies and bioinformatics is transforming our understanding of these enigmatic molecules, offering profound insights into their structure, function, and therapeutic potential.

What Are lncRNAs?

lncRNAs are RNA transcripts longer than 200 nucleotides that do not code for proteins. Despite their non-coding nature, they play diverse roles in gene regulation, including chromatin remodeling, transcriptional control, and post-transcriptional processing. Unlike messenger RNAs (mRNAs), lncRNAs often function as scaffolds, decoys, or guides in cellular machinery, influencing biological processes such as cell differentiation, immune response, and even cancer metastasis.

Challenges in lncRNA Research

Identifying and understanding lncRNAs pose unique challenges:

High Sequence Variability: Unlike protein-coding genes, lncRNAs exhibit low sequence conservation across species, making functional predictions difficult.
Low Expression Levels: lncRNAs are often expressed at low levels, complicating their detection in transcriptomic data.
Diverse Functions: The multifunctional nature of lncRNAs requires advanced computational tools to decipher their roles in complex networks.

Bioinformatics: A Crucial Ally in lncRNA Research

Bioinformatics bridges the gap between raw biological data and meaningful insights, making it indispensable in lncRNA research. Here’s how:

1. Identification and Annotation

High-throughput sequencing technologies like RNA-seq generate vast amounts of data. Bioinformatics tools such as StringTie, Cufflinks, and HISAT2 help assemble and annotate lncRNAs from this data. Additionally, databases like NONCODE, LNCipedia, and Ensembl provide curated repositories of lncRNA sequences and annotations.

2. Functional Prediction

Bioinformatics algorithms predict the potential functions of lncRNAs by analyzing their interactions with DNA, RNA, and proteins. Tools like LncRNA2Function and RIblast utilize sequence motifs and secondary structure predictions to hypothesize about the roles of specific lncRNAs.

3. Network Construction

lncRNAs often act as regulatory hubs. Bioinformatics platforms such as Cytoscape enable the visualization of lncRNA-mediated networks, elucidating their roles in pathways like cell cycle regulation and apoptosis.

4. Epigenetic Studies

lncRNAs are known to interact with chromatin-modifying complexes, influencing gene expression epigenetically. Tools like ChIP-seq and ATAC-seq, combined with computational pipelines, identify these interactions and map them to the genome.

5. Clinical Applications

Bioinformatics aids in the discovery of lncRNA biomarkers for diseases like cancer and neurodegenerative disorders. Machine learning models analyze differential expression profiles, helping prioritize lncRNAs with therapeutic potential.

Case Study: lncRNAs in Cancer Research

lncRNAs such as HOTAIR and MALAT1 have been implicated in cancer progression. Bioinformatics analyses have revealed their roles in promoting metastasis and altering the tumor microenvironment. For example, transcriptome analysis in cancer patients identifies lncRNA expression signatures, enabling precision medicine approaches.

Future Directions

The fusion of bioinformatics with experimental biology is unlocking the secrets of lncRNAs. Advances in artificial intelligence, single-cell sequencing, and structural modeling promise to overcome current limitations. Here are some promising directions:

Integrative Analysis: Combining multi-omics data to understand the interplay of lncRNAs with other biomolecules.
CRISPR Screens: Leveraging bioinformatics to design CRISPR-based functional screens for lncRNAs.
Therapeutic Development: Using bioinformatics to design lncRNA-based therapeutics, including antisense oligonucleotides and RNA interference tools.

Conclusion

lncRNAs are the hidden gems of the genome, and bioinformatics is the key to unearthing their full potential. As research progresses, lncRNAs could pave the way for novel diagnostics, targeted therapies, and personalized medicine, revolutionizing our approach to complex diseases.

The journey into the world of lncRNAs is only beginning, and bioinformatics will continue to play a pivotal role in decoding these molecular mysteries. Whether you’re a researcher, clinician, or bioinformatics enthusiast, the study of lncRNAs offers a fascinating frontier of discovery.

Genome Simulation with SLiM and msprime

BioStar — Fri, 31 Jan 2025 12:47:43 -0600

Genome simulation is an essential tool in population genetics, enabling researchers to model evolutionary processes and study genetic variation. Two widely used simulation tools in this field are SLiM and msprime. While both serve different purposes, they can be used together with the slendr framework to compare simulation outputs effectively.

Overview of SLiM and msprime

SLiM: Forward Genetic Simulator

SLiM is a free, open-source tool designed for forward genetic simulations. It allows researchers to model complex evolutionary scenarios, including selection, recombination, and demographic events, making it particularly useful for studying adaptation and selection in populations.

Key Features of SLiM:

Simulates population evolution forward in time
Supports custom evolutionary models using an embedded scripting language
Allows modeling of spatial and ecological dynamics
Provides high flexibility and extensibility for user-defined scenarios
Available on GitHub as an open-source project

msprime: Ancestry and Mutation Simulator

msprime is an efficient, open-source tool that simulates ancestry and mutations using a coalescent framework. It is known for its high-speed performance and low memory requirements, making it a popular choice for large-scale genomic simulations.

Key Features of msprime:

Implements coalescent simulations for ancestry modeling
Efficiently simulates large population histories
Supports the addition of mutations to genealogies
Developed using an open-source community model
Often faster and more memory-efficient than alternative simulators

Using SLiM and msprime with slendr

Both SLiM and msprime can be integrated with slendr, a framework that facilitates structured population genetic simulations. This integration allows for seamless comparison of simulation outputs.

How They Work Together:

SLiM and msprime simulations can be analyzed within slendr.
The ts_read() function in slendr enables loading and comparing tree sequence outputs from both simulators.
This integration allows researchers to validate simulation results and gain deeper insights into evolutionary processes.

Performance Considerations

While SLiM offers powerful forward simulations with extensive customization, msprime is often preferred for its speed and memory efficiency when simulating ancestry and mutations. The choice between the two depends on the research goals:

For detailed evolutionary modeling with selection and recombination: Use SLiM.
For large-scale coalescent simulations with mutations: Use msprime.
For comparing different simulation models and their outputs: Use slendr to integrate SLiM and msprime results.

Conclusion

SLiM and msprime are valuable tools for genome simulation, each serving distinct but complementary purposes in population genetics research. By leveraging the strengths of both simulators with slendr, researchers can conduct robust and efficient evolutionary simulations, enhancing our understanding of genetic diversity and adaptation.

For more information, check out the official GitHub repositories for SLiM and msprime, and explore the slendr framework for streamlined simulation workflow

Bioinformatics Algorithms

Jitendra Narayan — Tue, 16 Jul 2013 03:35:15 -0500

An algorithm is a computable set of steps to achieve a desired result.

We use algorithms every day. For example, a recipe for baking a cake is an algorithm. Most programs, with the exception of some artificial intelligence applications, consist of algorithms. Inventing elegant algorithms -- algorithms that are simple and require the fewest steps possible -- is one of the principal challenges in programming. An algorithm is a description of a procedure which terminates with a result. In other words an algorithm is a set of instructions, sometimes called a procedure or a function, that is used to perform a certain task. This can be a simple process, such as adding two numbers together, or a complex function, such as adding effects to an image. For example, in order to sharpen a digital photo, the algorithm would need to process each pixel in the image and determine which ones to change and how much to change them in order to make the image look sharper.

In mathematics, computer science, and related subjects, an algorithm is an effective method for solving a problem using a finite sequence of instructions. Algorithms are used for calculation, data processing, and many other fields.
Each algorithm is a list of well-defined instructions for completing a task. Starting from an initial state, the instructions describe a computation that proceeds through a well-defined series of successive states, eventually terminating in a final ending state. The transition from one state to the next is not necessarily deterministic; some algorithms, known as randomized algorithms, incorporate randomness.

History

The origin of the term comes from the ancients. The concept becomes more precise with the use of variables in mathematics. Algorithm in the sense of what is now used by computers appeared as soon as first mechanical engines were invented.
The word algorithm comes from the name of the 9th century Persian Muslim mathematician Abu Abdullah Muhammad ibn Musa Al-Khwarizmi. The word algorism originally referred only to the rules of performing arithmetic using Hindu-Arabic numerals but evolved via European Latin translation of Al-Khwarizmi's name into algorithm by the 18th century. The use of the word evolved to include all definite procedures for solving problems or performing tasks.
The algorithm of Archimedes gives an approximation of the Pi number.
Eratosthenes has defined an algorithim for retrieving prime numbers.
Averroès (1126-1198) was using algorithmic methods for calculations.
Adelard de Bath (12 th) introduces the algorismus term, from Al-Khwarizmi.
During the 1800's up to the mid-1900's:

- George Boole (1847) has invented the binary algebra, the basis of computers. Actually he has unified logic and calculation in a common symbolism.

- Gottlob Frege (1879) formula language's, that is a lingua characterica, a language written with special symbols, "for pure thought", that is free from rhetorical embellishments... constructed from specific symbols that are manipulated according to definite rules.

- Giuseppe Peano (1888) It's The principles of arithmetic, presented by a new method was the first attempt at an axiomatization of mathematics in a symbolic language.

- Alfred North Whitehead and Bertrand Russell in their Principia Mathematica (1910-1913) has further simplified and amplified the work of Frege.

- Kurt Goëdel (1931) cites the paradox of the liar that completely reduces rules of recursion to numbers.

The concept of algorithm was formalized in 1936 through Alan Turing's Turing machines and Alonzo Church's lambda calculus, which in turn formed the foundation of computer science.
Stephen C. Kleene (1943) defined his now-famous thesis known as the "Church-Turing Thesis". In this context:

" Algorithmic theories... In setting up a complete algorithmic theory, what we do is to describe a procedure, performable for each set of values of the independent variables, which procedure necessarily terminates and in such manner that from the outcome we can read a definite answer, "yes" or "no," to the question, "is the predicate value true?"

Classification

Classification by purpose

Each algorithm has a goal, for example, the purpose of the Quick Sort algorithm is to sort data in ascending or descending order. But the number of goals is infinite, and we have to group them by kind of purposes:

Classification by implementation

An algorithm may be implemeted according to different basical principles.

Recursive or iterative

A recursive algorithm is one that calls itself repeatedly until a certain condition matches. It is a method common to functional programming.
Iterative algorithms use repetitive constructs like loops.
Some problems are better suited for one implementation or the other. For example, the towers of hanoi problem is well understood in recursive implementation. Every recursive version has an iterative equivalent iterative, and vice versa.

Logical or procedural

An algorithm may be viewed as controlled logical deduction.
A logic component expresses the axioms which may be used in the computation and a control component determines the way in which deduction is applied to the axioms.
This is the basis of the logic programming. In pure logic programming languages the control component is fixed and algorithms are specified by supplying only the logic component.

Serial or parallel

Algorithms are usually discussed with the assumption that computers execute one instruction of an algorithm at a time. This is a serial algorithm, as opposed to parallel algorithms, which take advantage of computer architectures to process several instructions at once. They divide the problem into sub-problems and pass them to several processors. Iterative algorithms are generally parallelizable. Sorting algorithms can be parallelized efficiently.

Deterministic or non-deterministic

Deterministic algorithms solve the problem with a predefined process whereas non-deterministic algorithm must perform guesses of best solution at each step through the use of heuristics.

Classification by design paradigm

A design paradigm is a domain in research or class of problems that requires a dedicated kind of algorithm:

Divide and conquer

A divide and conquer algorithm repeatedly reduces an instance of a problem to one or more smaller instances of the same problem (usually recursively), until the instances are small enough to solve easily. One such example of divide and conquer is merge sorting. Sorting can be done on each segment of data after dividing data into segments and sorting of entire data can be obtained in conquer phase by merging them.
The binary search algorithm is an example of a variant of divide and conquer called decrease and conquer algorithm, that solves an identical subproblem and uses the solution of this subproblem to solve the bigger problem.

Dynamic programming

The shortest path in a weighted graph can be found by using the shortest path to the goal from all adjacent vertices.
When the optimal solution to a problem can be constructed from optimal solutions to subproblems, using dynamic programming avoids recomputing solutions that have already been computed.
- The main difference with the "divide and conquer" approach is, subproblems are independent in divide and conquer, where as the overlap of subproblems occur in dynamic programming.
- Dynamic programming and memoization go together. The difference with straightforward recursion is in caching or memoization of recursive calls. Where subproblems are independent, this is useless. By using memoization or maintaining a table of subproblems already solved, dynamic programming reduces the exponential nature of many problems to polynomial complexity.

The greedy method

A greedy algorithm is similar to a dynamic programming algorithm, but the difference is that solutions to the subproblems do not have to be known at each stage. Instead a "greedy" choice can be made of what looks the best solution for the moment.
The most popular greedy algorithm is finding the minimal spanning tree as given by Kruskal.

Linear programming

The problem is expressed as a set of linear inequalities and then an attempt is made to maximize or minimize the inputs. This can solve many problems such as the maximum flow for directed graphs, notably by using the simplex algorithm.
A complex variant of linear programming is called integer programming, where the solution space is restricted to all integers.

Reduction also called transform and conquer

Solve a problem by transforming it into another problem. A simple example: finding the median in an unsorted list is first translating this problem into sorting problem and finding the middle element in sorted list. The main goal of reduction is finding the simplest transformation possible.

Using graphs

Many problems, such as playing chess, can be modeled as problems on graphs. A graph exploration algorithms are used.
This category also includes the search algorithms and backtracking.

The probabilistic and heuristic paradigm

Probabilistic

Those that make some choices randomly.

Genetic

Attempt to find solutions to problems by mimicking biological evolutionary processes, with a cycle of random mutations yielding successive generations of "solutions". Thus, they emulate reproduction and "survival of the fittest".

Heuristic

Whose general purpose is not to find an optimal solution, but an approximate solution where the time or resources to find a perfect solution are not practical.

Classification by complexity

Some algorithms complete in linear time, and some complete in exponential amount of time, and some never complete.

Algorithms resources on net.

Graph Algorithms in Bioinformatics

Bioinformatics Algorithms Description

Bioinformatics Algorithms Course Page

Bioinformatics Algorithm Demonstrations

Introduction to Bioinformatics Algorithms Lectures 1-2 by Dr. Max Alekseyev USC, 2009

Online Lectures on Bioinformatics

Sequence Alignment Algorithms

Algorithm for sequence alignment: dynamic programming

Network Protocol Analysis using Bioinformatics Algorithms