JUNE 6th, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. RNA-seq diagnostics What’s the utility of RNA-seq from blood as a diagnostic tool for rare diseases? An exciting 7.5% diagnostic rate, and an additional 16.7% with improved candidate gene resolution [...]
May 23rd, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. The AI Corner Unsupervised learning in medicine! We don’t see this type of ML research often. Instead of training their algorithms with a large data set, these researchers allowed the [...]
May 9TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Secondary findings, primary news What's the burden of reporting incidental/secondary findings? A study of 700 exome tests found longer pre-test counseling sessions, 55 post-test genetic consultations and to 27 secondary [...]
Automated Evidence Retrieval from Literature Why are we adding AI to our workflow? It’s time to automate the work humans can do, but smart machines can too. Are machines better at these tasks? No, they just free up humans to spend their time on tasks only humans can perform. Who doesn’t [...]
APRIL 25TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Do you wanna know? Do patients want to know the results of their genetic tests? The answer is yes, if there an effective preventative measure for the disease. Researchers surveyed 650 [...]
It’s DNA Day 2019! DNA Day commemorates the completion of the Human Genome Project in April 2003 and the discovery of the double helix of DNA in 1953. In honor of the day, we took a closer look at the ~20,000 protein-coding genes in our DNA. We’ve been able to associate just [...]
APRIL 11TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Deep Learning in Genomics AI anyone? This article exploded in the Twittersphere, with almost 700 tweets at the time of publication. All jokes aside, genomics is a data-driven science and we [...]
MARCH 28TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Hubris meets Humility This was one of our favorite reads this week, but it could have been the title that hooked us in. How will medical genetics be transformed by [...]
MARCH 14TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Happy Pi Day everyone! Big, bigger, biggest It’s here, UK biobank first batch. 49,960 exomes, 4 million coding variants of which ~98.4% have frequency < 1%. The study should offer [...]
FEBRUARY 28TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Advice for the Sleep Deprived We all want to sleep better at night. Will we find the answer in genomics research? I’m guessing big pharma is watching these closely. Nature Genetics [...]
