Many variation calling tools and many other methods in bioinformatics require a reference genome as an input so may need to download human reference genome or sequences. There are several sources that freely and publicly provide the entire human genome and I’ll describe how to download complete human genome from University of California, Santa Cruz (UCSC) webpage.
JointSNVMix is a software package that consists of a number of tools for calling somatic mutations in tumour/normal paired NGS data.
Windows isn’t the best environment for software development I believe but if you have to use it there are nice softwares to make it easy for you. Cygwin here will help us to use Google Cloud tools but installation requires certain things that you should be aware of beforehand.
There was another weird result I got about my exon/intron boundaries analysis research. To less diverse species’ genes, intron lengths are shown to increase. However, according to my findings, at a point of Euarchontoglires or Supraprimates, this increase is very sharp and seems unexpected. So, I looked at exon/intron length each gene in each taxonomic rank and try to see what makes Euarchontoglires genes with that long introns.
I want to share an interesting finding about our research on exon/intron analysis of human evolutionary history.
PLINK is a whole genome association analysis toolset and to save time and space, you need to convert your data files to binary formats (BED, FAM, BIM) but of course when you need to view the files, you have to convert them back to non-binary formats (PED, MAP) to be able to open them in your text editor such as Notepad on Windows OS.
As a part of my project, I need to obtain exons and introns of certain genes. These genes are actually human genes that are determined for a specific reason that I will describe later when I explain my project. But for now, I want to share the way to obtain this information using (Perl) Ensembl API. Note that Ensembl has started a beautiful way (Ensembl REST API) of getting data but it is beta and it doesn’t provide exons / introns information. So we have to use Ensembl API.
There is a collection of color schemes for Geany as well.
Geany is a really nice text editor for Ubuntu. I would recommend it with TreeBrowser and some interface coding are color schemes.