A Hitchhiker's Guide to Next Generation Sequencing - Part 3
by Gabe Rudy, VP of Product Development
Biologists, geneticists, clinicians, and pretty much any researcher with questions about our genetic code can now more affordably and capably than ever get DNA samples sequenced and processed in their pursuit for answers. Yes, this new-found technology produces unwieldy outputs of data. But thankfully, as raw data is processed down to just the differences between genomes, we are dealing with rich and accurate information that can easily be handled by researchers on their own terms.
In this final installment of the Hitchhiker's Guide to Next Generation Sequencing, I'm going to explore in more depth the workflows of tertiary analysis, focusing primarily on genotypic variants. Over the last three to four years, the scientific community has proposed a set of methods and tools for us to review as we explore the current landscape of solutions. So let's examine the current state of sense making, how the field is progressing, and the challenges that lay ahead.
Continue reading on "Our 2 SNPs" »
Did you miss Parts 1 and 2?
In this post I plan to explore, in depth, what goes into the analysis of sequence data and why both the cost and complexity of the bioinformatics should not be ignored. Whether you plan to send samples to a sequencing-as-a-service center, or brave the challenges of sequencing samples yourself, this post will help distinguish the fundamental difference in analyses by their usage patterns and complexity. Continue reading on "Our 2 SNPs" »
In a series of three blog posts, I'm going to cover the evolution of sequencing technologies as a research tool, the bioinformatics of getting raw sequence data into something you can use, and finally the challenges and unmet needs Golden Helix sees in the sense-making of that processed sequence data. To start with, let's look at the story of how we got to where we are today. If you ever wondered what’s the difference between an Illumina HiSeq 2000 and a SOLiD 4hq, or why it seems that every six months the purported cost of whole genome sequencing is halved, then this story is for you. Continue reading on "Our 2 SNPs"»