Bioinformatics for Beginners – How to find known variants?

29/07/2013

If you’re interested in a specific gene (or set of genes) of the human genome, one of the important question you might consider is what (and what kind of and how many) variants are usually found in that particular genomic region. So here’s a list of online resources, to...

Flashcard Fridays – Open Online Courses

26/07/2013

I was searching for online learning resources and ran into the following article: “An Online Bioinformatics Curriculum” , written by David B. Searls. It is basically a collection of free online lectures and courses about biology, mathematics and computer science.

Workflow Wednesdays – Part 3. Read preprocessing – Subsampling

24/07/2013

It”s often a good idea (especially for large datasets) to use a subset of the reads for some preliminary analyses. A smaller dataset can be useful for figuring out the alignment parameters or checking for alignment problems.

Bioinformatics for Beginners – The UCSC Genome Browser

22/07/2013

The UCSC Genome Browser is developed and maintained by the Genome Bioinformatics Group at the University of California Santa Cruz. The website contains a large number of reference sequences and genome assemblies from different species. Sequences and annotation sets can be downloaded or viewed in the Genome Browser.

Flashcard Fridays – Incidental findings in genetic testing

19/07/2013

As multi-gene NGS panels and whole exome and genome sequencing become more and more accessible, clinical diagnostic protocols based on these methods are being developed as well. As the result of these sequencing runs doesn”t only contain information about a low number of genes or a predefined set of...