gene.iobio v3.0 is out! Simple, clean new look, REVEL scores, variant prioritization across list of candidate genes: gene.iobio.io

Our study achieving high diagnostic rate in early childhood seizures via whole-genome sequencing is out in Nature Genomic Medicine! Read at: rdcu.be/4r3R. Great job Aaron Quinlan, Josh, Betsy, Russ, brent pedersen , Andrew, ryanlayer, Tony Di Sera, Al, Chase, et al.!

In our new manuscript, we used WGS and comprehensive variant detection to diagnose 14/14 patients w/ EIEE. We implicated two new genes and found pathogenic SVs (one dup and one translocation) affecting two known EIEE genes. Great collab with Neurology! nature.com/articles/s4152…

A brand new iobio.io app just out! genepanel.iobio.io helps you create a list of candidate genes corresponding to the patient's disease and phenotype, using commercially available panel tests. Details at: iobio.io/tags/panel.iob… .

Another useful tool from an excellent team: genepanel.iobio.io

The much-awaited Mosaic genomic viz and analytics platform is out from Framshift! Great work, guys!

The paper describing our gene.iobio interactive variant analysis web tool is finally out: rdcu.be/czqFG. Awesome job, Tony Di Sera, Pub Snips 🔬, Alistair Ward, Chase Miller, @yi_q, Aditya Ekawade, Anders Pitman, and Steph Georges! Try it out at: gene.iobio.io

My lab is looking for a bioinformatics postdoc to develop computational algorithms for somatic mutation discovery, as part of NIH's new SMaHT Initiative. Exciting new project in my lab. See job posting at utah.peopleadmin.com/postings/149667 or contact me directly at [email protected].

chromosome ordering in broad bundle: "... chrM appears first instead of last." because, why not? software.broadinstitute.org/gatk/guide/art… #bioinformatics

This work is thanks to the fantastic interaction between clinicians and translational researchers at University of Utah x.com/JulieCKiefer/s…

gene.iobio.io v2.1 with nice new features! Also updated bam.iobio.io & vcf.iobio.io. All built with dev kit. x.com/AlistairNWard/…

(1/7) Exciting announcement - we've been awarded a NIH STTR grant to make a commercial application on top of the iobio platform

Happy to announce Frameshift has secured NIH small business funding to develop iobio platform goo.gl/ZCQ0lH

Cool re-use of gene.iobio.io check it out! x.com/AlistairNWard/…

Bob Dylan wins Nobel in literature! See nytimes.com/2016/10/14/art…. How awesome!!!

iobio.io tools are now integrated into Galaxy. Read iobio.io/2016/11/02/gal…. Super excited, been working on this for awhile.

Looking for a postdoc to develop computational algorithms for circulating tumor DNA analysis. Job ad/instructions: goo.gl/QGi142.

This is a really nice upgrade! Takes gene.iobio from a single-gene analysis tool to multi-gene analysis. Also, clean new interface look. x.com/AlistairNWard/…

IOBIO posters and demo now in Biondi Hall at #bog17.

Towards genomic patient analysis at the point of care: uofuhealth.utah.edu/utah-genome-pr…