@ribonucleicacid The paucity of As and Ts in the first exon is likely due to the depletion of start (ATG) and stop (TAA, TAG, TGA), all of which are AT rich. This general depletion of uORFs is observed quite generally.
Introducing PrimateAI-3D, a significant step forward in our use of deep learning to identify genetic mutations most likely to cause disease. Learn more about the groundbreaking research behind the updated algorithm, published today in @ScienceMagazine. https://t.co/OlFfHqyNfs
Interesting study of UK Biobank exomes for common traits. In aggregate, rare variants still explain much less variance than common PRS (note scale is corr), but can already better identify phenotypic extremes (top 0.1%).
https://t.co/4rRfRwp5c0
@ShechnerLab I got Psoralen-biotin (Ambion BrightStar) to work during my grad school days, both for small (~30nt) and large mRNAs. Caveat: probe was to EF1A, so a very abundant mRNA. Could work for your case though...
Groundbreaking research by Mo Ameen and Laksshman Sundaram in @Cell highlighting AI to diagnose non-coding de novo mutations in congenital heart disorders, with Anshul Kundaje, Will Greenleaf, Thomas Quartermous, Kevin Wang, Ioannis Karakikes at @Stanford: https://t.co/kSQxX1IPtp
@aspens_grove Also depends on where the conference is, and the field in general. CSHL / Gordon conferences in the basic sciences are chill (I've attended them in shorts, even as a postdoc), but the more "medical" and "European" a conference is, the better people tend to be dressed.
Our's and other bioinformatics data science groups at Illumina Singapore are rapidly expanding in the coming months. If the prospect of using *big* data to make fundamental and impactful discoveries in genome biology excites you, please reach out to me.
We will develop and use best-in-class AI methods (including deep learning) to better understand the biological and clinical impact of human genetic variation, with a particular focus on Asian genomes in Singapore.