BOL: Related items

vcf2maf convert !

Surabhi Chaudhary — Fri, 17 Dec 2021 03:20:01 -0600

To convert a VCF into a MAF, each variant must be mapped to only one of all possible gene transcripts/isoforms that it might affect. But even within a single isoform, a Missense_Mutation close enough to a Splice_Site, can be labeled as either in MAF format, but not as both. This selection of a single effect per variant, is often subjective. And that's what this project attempts to standardize. The vcf2maf and maf2maf scripts leave most of that responsibility to Ensembl's VEP, but allows you to override their "canonical" isoforms, or use a custom ExAC VCF for annotation. Though the most useful feature is the extensive support in parsing a wide range of crappy MAF-like or VCF-like formats we've seen out in the wild.

Address of the bookmark: https://github.com/mskcc/vcf2maf

vcfR: a package to manipulate and visualize VCF data in R

Jit — Thu, 25 Oct 2018 09:05:59 -0500

VcfR is an R package intended to allow easy manipulation and visualization of variant call format (VCF) data. Functions are provided to rapidly read from and write to VCF files. Once VCF data is read into R a parser function extracts matrices from the VCF data for use with typical R functions. This information can then be used for quality control or other purposes. Additional functions provide visualization of genomic data. Once processing is complete data may be written to a VCF file or converted into other popular R objects (e.g., genlight, DNAbin). VcfR provides a link between VCF data and the R environment connecting familiar software with genomic data.

Address of the bookmark: https://github.com/knausb/vcfR

Converting BLAST output into CSV

Poonam Mahapatra — Mon, 11 Dec 2017 04:17:58 -0600

Suppose we wanted to do something with all this BLAST output. Generally, that’s the case - you want to retrieve all matches, or do a reciprocal BLAST, or something.

As with most programs that run on UNIX, the text output is in some specific format. If the program is popular enough, there will be one or more parsers written for that format – these are just utilities written to help you retrieve whatever information you are interested in from the output.

Let’s conclude this tutorial by converting the BLAST output in out.txt into a spreadsheet format, using a Python script.

First, we need to get the script. We’ll do that using the ‘git’ program:

git clone https://github.com/ngs-docs/ngs-scripts.git /root/ngs-scripts

We’ll discuss ‘git’ more later; for now, just think of it as a way to get ahold of a particular set of files. In this case, we’ve placed the files in /root/ngs-scripts/, and you’re looking to run the script blast/blast-to-csv.py using Python:

python /root/ngs-scripts/blast/blast-to-csv.py out.txt

This outputs a spread-sheet like list of names and e-values. To save this to a file, do:

python /root/ngs-scripts/blast/blast-to-csv.py out.txt > ~out.csv

If you have Excel installed, try double clicking on it.

SeqFu: A Suite of Utilities for the Robust and Reproducible Manipulation of Sequence Files

Rahul Nayak — Tue, 01 Mar 2022 03:13:33 -0600

A general-purpose program to manipulate and parse information from FASTA/FASTQ files, supporting gzipped input files. Includes functions to interleave and de-interleave FASTQ files, to rename sequences and to count and print statistics on sequence lengths. SeqFu is available for Linux and MacOS.

A compiled program delivering high performance analyses
Supports FASTA/FASTQ files, also Gzip compressed
A growing collection of handy utilities, also for quick inspection of the datasets

Can be easily installed via conda:

conda install -c bioconda seqfu

Address of the bookmark: https://telatin.github.io/seqfu2/

BamView: a free interactive display of read alignments in BAM data files

Neel — Fri, 09 Nov 2018 13:43:22 -0600

To run the application on UNIX from the downloaded jar file run the UNIX:

java -mx512m -jar BamView.jar

and extra command line options are given when '-h' is used:

java -jar BamView.jar -h

BAM files can be specified on the command line with the '-a' option:

java -mx512m -jar BamView.jar -a pathToFile/sorted.bam

If a BAM filename is not given on the command line BamView will prompt for a file to be entered. The BAM index file should have the same name as the BAM file but with a '.bai' suffix. Multiple BAM files can be loaded and overlaid in the viewer. To make this easier BamView will read in files that contain a list of filenames.

Address of the bookmark: http://bamview.sourceforge.net/

Entrez Direct: E-utilities on the UNIX Command Line

Anjana — Wed, 19 Oct 2016 08:06:24 -0500

Entrez Direct (EDirect) is an advanced method for accessing the NCBI's suite of interconnected databases (publication, sequence, structure, gene, variation, expression, etc.) from a UNIX terminal window. Functions take search terms from command-line arguments. Individual operations are combined to build multi-step queries. Record retrieval and formatting normally complete the process.

EDirect also provides an argument-driven function that simplifies the extraction of data from document summaries or other results that are returned in structured XML format. This can eliminate the need for writing custom software to answer ad hoc questions. Queries can move seamlessly between EDirect commands and UNIX utilities or scripts to perform actions that cannot be accomplished entirely within Entrez.

Address of the bookmark: https://www.ncbi.nlm.nih.gov/books/NBK179288/

Biological file format tutorial

Jit — Sun, 17 Dec 2017 18:13:03 -0600

This section explains some of the commonly used file formats in bioinformatics. The information provided here is basic and designed to help users to distinguish the difference between different formats. Please refer user manual or other information resources on web for more details.

Address of the bookmark: https://bioinformatics.uconn.edu/resources-and-events/tutorials/file-formats-tutorial/

Convert VCF to tab-deilimited table

Seema Singh — Tue, 15 May 2018 07:39:08 -0500

Performed with GATK :

java -Xmx8g -jar GenomeAnalysisTK.jar \
-T VariantsToTable \
-R reference.fa \
-V reference_genomes_GT.vcf \
-F CHROM -F POS -F REF -F ALT -GF GT \
-o reference_genomes_GT.table
multiple_sample.vcf should also be converted to multiple_sample_GT.table using this approach.

Tools for id conversion

LEGE — Sat, 20 May 2023 21:53:32 -0500

g:Convert enables to convert between various gene, protein, microarray probe and numerous other types of namespaces. We provide at least 40 types of IDs for more than 60 species. The 98 different namespaces supported for human include Ensembl, Refseq, Illumina, Entrezgene and Uniprot identifiers. All namespaces are obtained through matching them via Ensembl gene identifiers as a reference.

Address of the bookmark: https://biit.cs.ut.ee/gprofiler/convert

Magic Wormhole: The Easiest Way to Send Files Securely

LEGE — Wed, 28 May 2025 06:37:17 -0500

In a world increasingly dependent on digital data exchange, secure and user-friendly file transfer solutions are more important than ever. Enter Magic Wormhole, a deceptively simple yet powerful tool that makes it trivial to send files and messages between computers—securely and without configuration. Whether you're transferring a PDF to a colleague or sending code snippets between your devices, Magic Wormhole has you covered.

What is Magic Wormhole?
Magic Wormhole is an open-source command-line tool that allows you to securely send files or text from one computer to another. Developed by Brian Warner, it aims to eliminate the usual hassle of file transfers: setting up SSH servers, dealing with firewall rules, cloud storage uploads, or even worrying about man-in-the-middle attacks.

Using a combination of PAKE (Password-Authenticated Key Exchange) protocols and end-to-end encryption, Magic Wormhole ensures that the only parties who can see your data are you and your recipient.

“It uses PAKE to establish a secure channel between two computers that use the same one-time code.”

How Does It Work?

One user runs a command like wormhole send file.txt.

The tool generates a human-readable, one-time code (like 7-horse-staple).

The other user types wormhole receive and enters the code.

The file is encrypted, transferred directly (or relayed if needed), and decrypted only on the recipient's side.

All of this happens over a secure channel, with no manual key exchange, configuration, or trust in a central authority.

Example Usage
# Sender
wormhole send myfile.pdf
Sending 1.4 MB file named 'myfile.pdf'
Wormhole code is: 7-horse-staple
# Receiver
wormhole receive
Please enter code: 7-horse-staple
Receiving file (1.4 MB) into: myfile.pdf

That’s it! No email attachments, no cloud storage, no FTP setups.

Why Use Magic Wormhole?
End-to-end encrypted transfers using modern cryptography.

Easy to use even for non-technical users.

Cross-platform: Works on Linux, macOS, and Windows.

No servers needed (except for a lightweight transit relay).

Works even behind NAT/firewalls.

It’s particularly ideal for:

Quickly sharing secrets or passwords.

Distributing software packages securely.

Moving files between servers or VMs.

Under the Hood
Magic Wormhole is written in Python and uses:

SPAKE2 for key exchange.

Transit relay and Mailbox server for message delivery.

Twisted framework for asynchronous networking.

The communication process is decentralized and designed to minimize the trust placed in the relay infrastructure. Even if an attacker intercepts the transit server, they cannot decrypt your data.

Installation

You can install it easily with pip:

pip install magic-wormhole

There’s also a Homebrew package for macOS users:

brew install magic-wormhole
Community and Ecosystem
Magic Wormhole is more than just a file transfer tool. It's part of a growing ecosystem that values user-centric cryptography. There are community-maintained libraries for other languages (e.g., Go, Rust), GUI frontends like wormhole-gui, and integration projects for mobile and web use.

Limitations

While Magic Wormhole is elegant and secure, it’s primarily a command-line utility and not designed for high-volume or persistent file sharing. Transfers require both sender and receiver to be online at the same time. And since it’s peer-to-peer, very large files may suffer performance issues.

Conclusion
Magic Wormhole is a breath of fresh air in the complex world of secure communication. It proves that cryptographic security doesn’t need to come with a heavy user experience cost. If you’re looking for a simple, secure, and delightful way to send files or messages, give Magic Wormhole a try.

Explore the documentation: https://magic-wormhole.readthedocs.io