Frank Nothaft & Evan Maxwell talking now in #ASHG19 CoLab 2 about Project Glow — a toolkit for biobank-scale genomics projectglow.io

Last day at #ASHG19 . Come and join the session about #Bioinformatics and #MachineLearning that I am delighted to moderate at 8:30am room 310. Exciting talks from Sai Chen Illumina, Jeffrey G. Reid (hoping for a cat pic!) Regeneron and others. Get a coffee and join!!

Jeffrey G. Reid Variant calling essentially "solved", but edge cases are complicated. Retraining already well-performing models leads to further improvement. Next steps: More difficult training curriculum #ASHG19

Jeffrey G. Reid #ASHG19 Used Regeneron's refined exome seq. Re-trained DeepVariant to make own model. Warmstart from WES model, converges quickly to new tuned model. Large improvement to indels, difficult regions (exome buffer). Reduce Mendelian violation, esp outside confident region.

Pls RT! Exciting 2020 internships (one with me) in ML and Genetics for health in the method dev team at Regeneron Genetics Center - team led by Jonathan Marchini (with @codushlaine, etc). Work with me on utilizing pathway information to discover drug targets.👇 careers.regeneron.com/job/REGEA00261…

Here is a new paper from the Regeneron Genetics Center biorxiv.org/content/10.110… A new, fast ML method for whole genome regression. The REGENIE website is here rgcgithub.github.io/regenie/ with free source code. Amazing work from @jojoladisco Leland Barnard Evan Maxwell 1/10

Huge extra-special thanks to the brilliant @Databricks team who have really made this possible -- most especially Henry Davidge Henry Davidge Karen Feng Karen Feng Kiavash Kianfar @KiavashKianfar and led by Frank Austin Nothaft Frank Austin Nothaft -- a good friend and great collaborator!

Today we released GloWGR in collaboration with the Regeneron Genetics Center. I'm thrilled to make this work available to the world and so proud of the team that made it possible. x.com/jgreid/status/…

We also have to thank everyone from the UK Biobank Exome Sequencing Consortium (UKB-ESC) AbbVie Alnylam Pharmaceuticals AstraZeneca Biogen Science At BMS Pfizer Inc. Takeda -- who partnered with us Regeneron to generate the exome data, do this analysis, and make these results public.

Did you hear? Glow, an #opensource toolkit for large-scale genomic analysis, is 10x more computationally efficient than industry-leading tools for genetic association studies 🤩 Get all the details & see why we ❤️ Glow on #Lakehouse ⬇️ dbricks.co/3FoJZvu