BOL: Related items

Genome in a Bottle (GIAB) Consortium

Jit — Sat, 25 Jan 2020 13:50:52 -0600

The Genome in a Bottle (GIAB) Consortium is a public-private-academic consortium hosted by NIST to develop the technical infrastructure (reference standards, reference methods, and reference data) to enable translation of whole human genome sequencing to clinical practice.

https://www.nist.gov/news-events/news/2016/09/nist-releases-new-family-standardized-genomes

Address of the bookmark: https://jimb.stanford.edu/giab/

Large Language Models in Bioinformatics: Transforming Data Analysis and Interpretation

LEGE — Thu, 02 Jan 2025 11:26:29 -0600

The integration of artificial intelligence (AI) into bioinformatics has ushered in a new era of computational biology. Among the most transformative advancements are large language models (LLMs), such as GPT and BERT, which leverage deep learning to process and interpret vast amounts of text data. These models are reshaping bioinformatics by enhancing data analysis, hypothesis generation, and literature mining.

Understanding Large Language Models

LLMs are AI systems trained on extensive datasets of natural language. Their ability to model context, identify patterns, and generate coherent language has proven invaluable across domains, including bioinformatics. By fine-tuning these models on biological datasets, researchers can unlock insights into molecular biology, systems biology, and beyond.

Key Applications of LLMs in Bioinformatics

1. Annotating Biological Data

Annotating genomic and proteomic data is fundamental yet labor-intensive. LLMs streamline this process by extracting functional annotations from literature and databases, predicting gene and protein functions, and providing automated insights.

2. Mining Scientific Literature

The exponential growth of publications presents a challenge for researchers to stay updated. LLMs can process large volumes of text to extract key findings, summarize papers, and identify trends, thereby facilitating efficient literature reviews.

3. Predicting Gene and Protein Functions

By leveraging sequence data and annotations, LLMs can predict the functions of uncharacterized genes and proteins. This capability is particularly useful for studying non-model organisms and orphan genes.

4. Drug Discovery and Repurposing

LLMs enable pattern recognition across chemical, genomic, and clinical datasets, identifying novel drug candidates and repurposing existing drugs for new therapeutic targets. They can simulate interactions between drugs and biological molecules, accelerating the discovery pipeline.

5. Generating Hypotheses for Research

LLMs analyze complex datasets to propose testable hypotheses. For example, they can predict protein-protein interactions, identify regulatory motifs, or model evolutionary processes in genomes.

Advantages of LLMs in Bioinformatics

Scalability: LLMs process massive datasets rapidly, reducing the time required for data analysis.
Versatility: These models adapt to diverse bioinformatics tasks, from genomic annotation to network analysis.
Contextual Insights: By synthesizing information across disparate datasets, LLMs provide integrative insights into biological systems.

Challenges in Applying LLMs

Despite their promise, LLMs face limitations:

Data Quality and Bias: Inaccurate or biased datasets can affect model predictions, necessitating rigorous data curation.
Interpretability: Understanding the decision-making process of LLMs remains a critical challenge, especially in high-stakes fields like genomics and medicine.
Resource Intensity: Training and deploying LLMs require substantial computational power, which can limit accessibility.
Ethical Concerns: Handling sensitive genomic data raises privacy and security issues, emphasizing the need for ethical guidelines.

Future Prospects

The continued development of LLMs tailored for bioinformatics promises exciting advancements. Specialized models trained on omics data, open-access platforms, and interdisciplinary collaborations will expand the utility of LLMs. Moreover, integrating LLMs with other AI technologies, such as graph neural networks and reinforcement learning, can unlock deeper biological insights.

Conclusion

Large language models are revolutionizing bioinformatics by addressing longstanding challenges in data annotation, literature mining, and function prediction. Their ability to analyze complex biological datasets efficiently positions them as indispensable tools for modern research. As bioinformatics embraces AI, the synergy between LLMs and biological sciences holds the potential to unravel the complexities of life with unprecedented precision and scale.

Delta: a new Web-based 3D genome visualization and analysis platform

Jit — Wed, 20 Dec 2017 08:49:55 -0600

Delta is an integrative visualization and analysis platform to facilitate visually annotating and exploring the 3D physical architecture of genomes. Delta takes Hi-C or ChIA-PET contact matrix as input and predicts the topologically associating domains and chromatin loops in the genome. It then generates a physical 3D model which represents the plausible consensus 3D structure of the genome. Deltafeatures a highly interactive visualization tool which enhances the integration of genome topology/physical structure with extensive genome annotation by juxtaposing the 3D model with diverse genomic assay outputs.

https://github.com/zhangzhwlab/delta

Address of the bookmark: https://github.com/zhangzhwlab/delta

NanoPack: visualizing and processing long-read sequencing data

Jit — Tue, 25 Dec 2018 21:20:50 -0600

The NanoPack tools are written in Python3 and released under the GNU GPL3.0 License. The source code can be found at https://github.com/wdecoster/nanopack, together with links to separate scripts and their documentation. The scripts are compatible with Linux, Mac OS and the MS Windows 10 subsystem for Linux and are available as a graphical user interface, a web service at http://nanoplot.bioinf.be and command line tools.

Address of the bookmark: https://github.com/wdecoster/nanopack

Parliament2: Runs a combination of tools to generate structural variant calls on whole-genome sequencing data

Jit — Thu, 28 May 2020 21:57:03 -0500

Parliament2 identifies structural variants in a given sample relative to a reference genome. These structural variants cover large deletion events that are called as Deletions of a region, Insertions of a sequence into a region, Duplications of a region, Inversions of a region, or Translocations between two regions in the genome.

Parliament2 runs a combination of tools to generate structural variant calls on whole-genome sequencing data. It can run the following callers: Breakdancer, Breakseq2, CNVnator, Delly2, Manta, and Lumpy. Because of synergies in how the programs use computational resources, these are all run in parallel. Parliament2 will produce the outputs of each of the tools for subsequent investigation.

Address of the bookmark: https://github.com/dnanexus/parliament2

Ktrim: an extra-fast and accurate adapter- and quality-trimmer for sequencing data

Jit — Thu, 11 Feb 2021 21:39:05 -0600

Ktrim is written in C++ for GNU Linux/Unix platforms. After uncompressing the source package, you can find an executable file ktrim under bin/ directory compiled using g++ v4.8.5 and linked with libz v1.2.7 for Linux x86_64 system. If you could not run it (which is usually caused by low version of libc++ or libz library) or you want to build a version optimized for your system, you can re-compile the programs:

user@linux$ make clean && make

Address of the bookmark: https://github.com/hellosunking/Ktrim

Import R Data

Abhimanyu Singh — Wed, 12 Jul 2017 08:30:46 -0500

It is often necessary to import sample textbook data into R before you start working on your homework.

Excel File

Quite frequently, the sample data is in Excel format, and needs to be imported into R prior to use. For this, we can use the function read.xls from the gdata package. It reads from an Excel spreadsheet and returns a data frame. The following shows how to load an Excel spreadsheet named "mydata.xls". This method requires Perl runtime to be present in the system.

> library(gdata)                   # load gdata package
> help(read.xls)                   # documentation
> mydata = read.xls("mydata.xls")  # read from first sheet

Alternatively, we can use the function loadWorkbook from the XLConnect package to read the entire workbook, and then load the worksheets with readWorksheet. The XLConnect package requires Java to be pre-installed.

> library(XLConnect) # load XLConnect package
> wk = loadWorkbook("mydata.xls")
> df = readWorksheet(wk, sheet="Sheet1")

Minitab File

If the data file is in Minitab Portable Worksheet format, it can be opened with the function read.mtp from the foreign package. It returns a list of components in the Minitab worksheet.

> library(foreign)                 # load the foreign package
> help(read.mtp)                   # documentation
> mydata = read.mtp("mydata.mtp")  # read from .mtp file

SPSS File

For the data files in SPSS format, it can be opened with the function read.spss also from the foreign package. There is a "to.data.frame" option for choosing whether a data frame is to be returned. By default, it returns a list of components instead.

> library(foreign) # load the foreign package
> help(read.spss) # documentation
> mydata = read.spss("myfile", to.data.frame=TRUE)

Table File

A data table can resides in a text file. The cells inside the table are separated by blank characters. Here is an example of a table with 4 rows and 3 columns.

100   a1   b1
200   a2   b2
300   a3   b3
400   a4   b4

Now copy and paste the table above in a file named "mydata.txt" with a text editor. Then load the data into the workspace with the function read.table.

> mydata = read.table("mydata.txt")  # read text file
> mydata                             # print data frame
   V1 V2 V3
1 100 a1 b1
2 200 a2 b2
3 300 a3 b3
4 400 a4 b4

For further detail of the function read.table, please consult the R documentation.

> help(read.table)

CSV File

The sample data can also be in comma separated values (CSV) format. Each cell inside such data file is separated by a special character, which usually is a comma, although other characters can be used as well.

The first row of the data file should contain the column names instead of the actual data. Here is a sample of the expected format.

Col1,Col2,Col3
100,a1,b1
200,a2,b2
300,a3,b3

After we copy and paste the data above in a file named "mydata.csv" with a text editor, we can read the data with the function read.csv.

> mydata = read.csv("mydata.csv")  # read csv file
> mydata
  Col1 Col2 Col3
1  100   a1   b1
2  200   a2   b2
3  300   a3   b3

In various European locales, as the comma character serves as the decimal point, the function read.csv2 should be used instead. For further detail of the read.csv and read.csv2 functions, please consult the R documentation.

> help(read.csv)

Working Directory

Finally, the code samples above assume the data files are located in the R working directory, which can be found with the function getwd.

> getwd() # get current working directory

You can select a different working directory with the function setwd(), and thus avoid entering the full path of the data files.

> setwd("") # set working directory

Note that the forward slash should be used as the path separator even on Windows platform.

> setwd("C:/MyDoc")

lordFAST: sensitive and Fast Alignment Search Tool for LOng noisy Read sequencing Data

BioJoker — Tue, 27 Nov 2018 04:43:57 -0600

lordFAST is a sensitive tool for mapping long reads with high error rates. lordFAST is specially designed for aligning reads from PacBio sequencing technology but provides the user the ability to change alignment parameters depending on the reads and application.

lordFAST, a novel long-read mapper that is specifically designed to align reads generated by PacBio and potentially other SMS technologies to a reference. lordFAST not only has higher sensitivity than the available alternatives, it is also among the fastest and has a very low memory footprint.

Address of the bookmark: https://github.com/vpc-ccg/lordfast

Fundamentals of Data Visualization by Claus O. Wilke

Abhi — Sat, 08 Jun 2024 16:07:19 -0500

The book is meant as a guide to making visualizations that accurately reflect the data, tell a story, and look professional. It has grown out of my experience of working with students and postdocs in my laboratory on thousands of data visualizations. Over the years, I have noticed that the same issues arise over and over. I have attempted to collect my accumulated knowledge from these interactions in the form of this book.

The entire book is written in R Markdown, using RStudio as my text editor and the bookdown package to turn a collection of markdown documents into a coherent whole. The book’s source code is hosted on GitHub, at https://github.com/clauswilke/dataviz.

Address of the bookmark: https://clauswilke.com/dataviz/

GraphMap - A highly sensitive and accurate mapper for long, error-prone reads

Rahul Agarwal — Mon, 06 Jul 2015 08:46:53 -0500

GraphMap is a novel mapper targeted at aligning long, error-prone third-generation sequencing data.
It is designed to handle Oxford Nanopore MinION 1d and 2d reads with very high sensitivity and accuracy, and also presents a significant improvement over the state-of-the-art for PacBio read mappers.

GraphMap was also designed for ease-of-use: the default parameters can handle a wide range of read lengths and error profiles, including: Illumina, PacBio and Oxford Nanopore.
This is an especially important feature for technologies where the error rates and error profiles can vary widely across, or even within, sequencing runs.

http://biorxiv.org/content/early/2015/06/10/020719

Address of the bookmark: https://github.com/isovic/graphmap