SEPTEMBER 5TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Should we CNV? Researchers map the landscape of CNV burden & associations w/ 3000+ phenotypes in the UK Biobank. AJHG Targeted NGS of 500 IRD patients reveals that copy-number variations account [...]
AUGUST 15TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Welcome to Breaking Genes, the high impact factor edition. Although we were going to take a summer publishing hiatus in August, genetics showed up in force in the big medical journals. [...]
JULY 18TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Deeper into the human genome We love it when genomics make it into NEJM, getting attention from the wider medical community. This well-written and interesting review by Evan Eichler out of [...]
JULY 3RD, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Beyond SNPs A deletion in the noncoding region reveals a gene that is critical for intestinal function. Researchers studied 8 infants with intractable congenital diarrhea from 7 unrelated families, where a [...]
7 keys to a trustworthy AI according to the EU guidelines “Machines take me by surprise with great frequency.” — Alan Turing The term ‘artificial intelligence’ has been around since the 1950s, and nowadays it is simply everywhere, with machine learning algorithms and neural networks taking part in any and all [...]
JUNE 20th, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Reanalysis doubles yield Researchers from Baylor reanalyzed a cohort of 250 exomes 6 years later, doubling yield. However manual interpretation isn’t feasible with large amounts of past open cases. They [...]
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 [...]
