BOL: Related items

Figeno: Tool for plotting sequencing data along genomic coordinates.

LEGE — Tue, 17 Sep 2024 02:28:15 -0500

Tool for plotting sequencing data along genomic coordinates.

FIGENO is a
  FIGure
    GENerator
for GENOmics

With figeno, you can plot various types of sequencing data along genomic coordinates. Video overview: https://www.youtube.com/watch?v=h1cBeXoSYTA.

Address of the bookmark: https://github.com/CompEpigen/figeno

Managing and Analyzing Next-Generation Sequence Data

Rahul Agarwal — Sat, 10 May 2014 06:28:06 -0500

Centralized Bioinformatics Core Facilities provide shared resources for the computational and IT requirements of the investigators in their department or institution. As such, they must be able to effectively react to new types of experimental technology. Recently faced with an unprecedented flood of data generated by the next generation of DNA sequencers, these groups found it necessary to respond quickly and efficiently to the informatics and infrastructure demands. Centralized Facilities newly facing this challenge need to anticipate time and design considerations of necessary components, including infrastructure upgrades, staffing, and tools for data analyses and management ...

More at http://www.ploscompbiol.org/article/info%3Adoi%2F10.1371%2Fjournal.pcbi.1000369

Address of the bookmark: http://www.ploscompbiol.org/article/info%3Adoi%2F10.1371%2Fjournal.pcbi.1000369

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")

NCBI to assist in Virus Hunting Data Science Hackathon

BioStar — Thu, 15 Nov 2018 12:55:01 -0600

NCBI Hackathon are pleased to announce the second installment of the SoCal Bioinformatics Hackathon. From January 9-11, 2019, the NCBI will help run a bioinformatics hackathon in Southern California hosted by the Computational Sciences Research Center at San Diego State University!

NCBI Hackathon specifically looking for folks who have experience in computational virus hunting or adjacent fields to identify known, taxonomically-definable and novel viruses from a few hundred thousand metagenomic datasets that we’ll put on cloud infrastructure. This event is for researchers, including students and postdocs, who are already engaged in the use of bioinformatics data or in the development of pipelines for virological analyses from high-throughput experiments. If this describes you, please apply! The event is open to anyone selected for the hackathon and willing to travel to SDSU (see below).

https://ncbiinsights.ncbi.nlm.nih.gov/2018/11/09/ncbi-sdsu-virus-hunting-data-science-hackathon-january-2019/

De novo Genome Assembly for Illumina Data

Rahul Nayak — Mon, 20 Jan 2020 05:13:29 -0600

Written and maintained by Simon Gladman - Melbourne Bioinformatics (formerly VLSCI)

Protocol Overview / Introduction

In this protocol we discuss and outline the process of de novo assembly for small to medium sized genomes.

https://www.melbournebioinformatics.org.au/tutorials/tutorials/assembly/assembly-protocol/

Address of the bookmark: https://www.melbournebioinformatics.org.au/tutorials/tutorials/assembly/assembly-protocol/

BioJupies: Automatically Generates RNA-seq Data Analysis Notebooks

Rahul Nayak — Sun, 20 Dec 2020 11:43:45 -0600

With BioJupies you can produce in seconds a customized, reusable, and interactive report from your own raw or processed RNA-seq data through a simple user interface

BioJupies now supports user accounts! Sign in from the top right corner of the page for access to unlimited private notebooks, RNA-seq datasets and alignment jobs.

Address of the bookmark: https://amp.pharm.mssm.edu/biojupies/

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/

BRaVa Browser

Jitendra Narayan — Sun, 23 Aug 2026 10:32:19 -0500

BRaVa Browser is an interactive web tool for exploring rare genetic variant associations. It allows users to search and visualize rare variant association results across genes and traits, making it easier to investigate potential relationships between genetic variation and disease or other phenotypes.

More at https://nikbaya.github.io/brava_browser/#/

Address of the bookmark: https://nikbaya.github.io/brava_browser/#/

Genetic-mapper: SVG Genetic Map Drawer

Jit — Sun, 18 Jun 2017 14:11:10 -0500

Genetic-mapper is a perl script able to draw publication-ready vectorial genetic maps.

Perl script for creating a publication-ready vectorial genetic/linkage map in Scalable Vector Graphics (SVG) format. The resulting file can either be submitted for publication and edited with any vectorial drawing software like Inkscape and Abobe Illustrator(R).

The input file must be a text file with at least the marker name (ID), linkage group (LG) and the position (POS) separeted by tabulations. Additionally a logarithm of odds (LOD score) can be provided. Any extra parameter will be ignored.

map.tsv

IDLGPOSLOD
13519  12     0       0.250840894
2718   12     1.0     0.250840893
11040  12     1.6     0.252843341
...

https://github.com/pseudogene/genetic-mapper

Address of the bookmark: https://github.com/pseudogene/genetic-mapper

Genetic basis of tail-loss evolution

LEGE — Tue, 04 Mar 2025 12:12:36 -0600

The paper "On the genetic basis of tail-loss evolution in humans and apes (https://www.nature.com/articles/s41586-024-07095-8)", published in Nature, investigates the genetic mechanisms that led to the loss of tails in humans and apes. The study suggests that a specific genetic mutation, involving the insertion of an Alu element (a type of transposable DNA sequence), played a critical role in the evolutionary transition from tailed primates to tailless hominoids.

Key Findings of the Study:

Alu Insertion and Tail Loss:
The researchers discovered an Alu-mediated genetic change in a common ancestor of modern apes and humans. This change disrupted the normal function of a gene involved in tail development, leading to the suppression of tail formation.
Gene Disruption Mechanism:
The Alu insertion was found within a regulatory region of the TBXT gene (also known as T or Brachyury), which is crucial for tail development in vertebrates. This insertion likely altered the gene's expression patterns, leading to tail reduction over evolutionary time.
Functional Evidence from Model Organisms:
To test their hypothesis, the researchers introduced similar genetic modifications in mice. The modified mice exhibited shortened or absent tails, supporting the idea that the identified mutation played a role in tail loss in hominoids.
Evolutionary Implications:
The findings suggest that small, random genomic changes—such as transposable element insertions—can have profound effects on body morphology. This study provides evidence that mobile DNA elements (like Alu) can drive major evolutionary transitions.
Relevance to Human Evolution:
Understanding the genetic basis of tail loss helps in reconstructing the evolutionary history of hominins (the lineage that includes humans and our extinct relatives). It also sheds light on how genetic variations contribute to anatomical diversity among primates.

Significance of the Study:

This research highlights the role of transposable elements in shaping evolutionary traits and provides a concrete genetic explanation for a defining characteristic of humans and great apes. It also demonstrates how mutations in regulatory regions of developmental genes can lead to significant anatomical changes.