It is usually thought that we can confidently say that if our genotyping results say that we carry a certain genetic variant, that we actually do carry that variant. However, why does this not mean that we can be confident about the prediction about disease risks?There are many risks and benefits associated with population screening, …
How Well Can a Screening Test Predict Disease Risk? Read More »
It’s been over eight years since Oxford Nanopore presented the first ever nanopore sequencing data at the AGBT conference in February 2012, where they provided an overview of the hardware and software behind the GridION and MinION systems. Even today Oxford Nanopore could be seen as a dark horse. Their GridION platform is used to run …
Cluster Sequencing with Oxford Nanopore’s GridION System Read More »
I agreed to make my 23andMe genotyping results available publicly as part of GNZ because I knew that the results were slightly dull, and I’m not majorly at high or low risk for any diseases. I was also very unsurprised to find out that I have blue eyes and that I was identified to be …
At the annual Advances in Genome Biology and Technology (AGBT) conference held in Florida during 2012, there were many exciting announcements and developments in the world of DNA sequencing technology. An especially cool piece of news came from the team at Oxford Nanopore, the stars of our piece on cluster sequencing, about their (then) brand new …
Alzheimer’s disease is a form of dementia that impacts the brain and results in memory loss. In recent years we have been able to study it and its risk factors to calculate the chances of you being affected by the disease. Today we are going to look at how that risk is calculated. Most people who …
A little while back, Razib Khan used data from 23andMe to explore his family’s genetic history. He previously published his findings and summarized them. Today, I’m going to fill you in on what he had to say!Khan was interested in genetics, anthropology, and history, mainly how we have changed the way lineages are marked thanks …
In May 2019, it was reported in an article that over ten thousand sequence mismatches were observed between messenger RNA and DNA from the same individuals. More recently, three technical comments were published by Science surrounding this article. It was concluded that at least 90% of the Li et al. RDD sites are technical artifacts. …
Questioning the Evidence for Non-Canonical RNA Editing in Humans Read More »
The common notion running through molecular biology is that the information present in DNA is transferred to RNA and then to protein. Back in 2010, researchers made a potentially ground-breaking observation. They found that within any given individual, there are tens of thousands of places where transcribed RNA does not match the template DNA from …
Notes on the Evidence for Extensive RNA Editing in Humans Read More »
This was once a guest post by Karol Estrada, who was a postdoctoral research fellow in the Analytic and Translational Research Unit at Massachusetts General Hospital and the Broad Institute of MIT and Harvard. It was written in memory of Laura Riba. We have briefly summarised her thoughts and findings from that post below.Karol discusses …
A Rare Variant in Mexico with Far-reaching Implications Read More »
Tensions were high today at the US Congress Committee on Energy and Commerce hearing into direct-to-consumer (DTC) genetic testing. Three spokespersons from the 3 major DTC testing companies (Navigenics, 23AndMe and Pathways Genomics) were made to defend their companies and the DTC industry whilst some of the committee members found it difficult to pick out …
