Genome sequencing. Despite continual progress in understanding the genetic etiology of human disease, more than half of rare disorders remain unsolved. Resolving the remaining etiologies in rare disease are a major focus of ongoing efforts in the field, including a shift towards standardized analysis of large-scale genome sequencing data from large patient cohorts. In a recent study, Greene and collaborators aimed to identify associations between genes and rare disease subgroups, leveraging genomes of 77,539 people including 29,741 probands. Here is a brief review on their publication in the context of etiological resolution in rare disease.
Tag Archives: Genome Research
Papers of the week
My name is Dennis Lal, I am working on the genetics of rolandic epilepsy and idiopathic generalized epilepsies within the EuroEPINOMICS consortium. Like many scientists, I read a lot of publications, or well, at least the abstract. Roland and Ingo asked me repeatedly to write a post but I was afraid of losing too much time. But as a young and naive scientist you have to give things a try.That’s why I started commenting on my favorite papers of the week, collected here. This “experiment” is currently at 35 minutes (after several rounds of editing) and I aim to finish this blog post below 60 minutes.
