Computational biology and genomics
In this post, I will compare different tools for comparing VCF files. To create a reproducible example, I will make use of Docker and Conda. I highly recommend learning about these tools if you haven’t already; they make it easier to reproduce your work. I have written some notes on Docker and Conda that maybe…
This is an update on my original post Setting up Windows for bioinformatics that I wrote in 2011. I had switched over to the Mac operating system (Mac OS X) for work when my HP laptop was replaced with a MacBook Air sometime in 2012. A few years later, I wiped my Windows installation from…
I’m a big fan of the book Bioinformatics Data Skills by Vince Buffalo and I highly recommend it to everyone who works in the bioinformatics field. The book introduces the reader to The Golden Rule of Bioinformatics, which is: Never ever trust your tools (or data). I am a strong proponent of this rule, which…
A quick guide to organizing computational biology projects has been published over 8 years ago but the main messages are still very relevant (perhaps even more so nowadays given the exponential increase in biological data). In a nutshell, computational biology projects need to be organised so that we can share and reproduce our work in…
From the original paper describing the Gene Set Enrichment Analysis: The goal of GSEA is to determine whether members of a gene set S tend to occur toward the top (or bottom) of the list L, in which case the gene set is correlated with the phenotypic class distinction.
A popular toolset used for analysing RNA-seq data is the tuxedo suite, which consists of TopHat and Cufflinks. The suite provided a start to finish pipeline that allowed users to map reads, assemble transcripts, and perform differential expression analyses. A newer “tuxedo suite” has been developed and is made up of three tools: HISAT, StringTie,…
The Gene Transfer Format (GTF) is a refinement of the General Feature Format (GFF). A GFF file has nine columns: seqname The name of the sequence; must be a chromosome or scaffold. source The program that generated this feature. feature The name of this type of feature, e.g. “CDS”, “start_codon”, “stop_codon”, and “exon” start The…
Updated 2018 May 29th to include example using a config file As promised two years ago, here’s a short blog post on Snakemake. I have been using Bpipe to manage my workflows/pipelines but Snakemake has been mentioned to me on more than one occasion; in particular: @davetang31 seems useful if testing many diff types of…
A couple of weeks ago, I wrote a post on identifying OMIM phenotypes that are associated with a gene of interest. I thought I solved the problem by using one of my favourite R packages (biomaRt) but alas. For example, I could not find any OMIM IDs associated with the TTN gene using biomaRt. In…
One of the classic bioinformatics problems is converting files from one format into another. In this post, I go through the process of creating a PED and MAP file from a VCF file. All the files described in this post are available in this GitHub repository.