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/posting… or contact me directly at [email protected].
The paper describing our gene.iobio interactive variant analysis web tool is finally out: rdcu.be/czqFG. Awesome job, @tony_disera, @PubSnips, @AlistairNWard, @ChaseAllnMiller, @yi_q, @Adya_E, @anderspitman, and Steph Georges!
Try it out at: gene.iobio.io/
The much-awaited Mosaic genomic viz and analytics platform is out from Framshift! Great work, guys!
Excited to release a free version of our genomic visualization & analytics platform, Mosaic. Add unlimited samples (AWS S3 so far). Organize projects across buckets, add teammates, & better understand your data. mosaic.frameshift.io . Overview Video youtube.com/watch?v=GBX63nkb…
Gabor Marth retweeted
Another useful tool from an excellent team: genepanel.iobio.io/
genepanel.iobio - an easy to use web tool for generating disease- and phenotype-associated gene lists biorxiv.org/cgi/content/shor… #biorxiv_genomic
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.iobio/ .
Gabor Marth retweeted
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/s41525-0…
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 @aaronquinlan, Josh, Betsy, Russ, @brent_p , Andrew, @ryanlayer, @tony_disera, Al, Chase, et al.!
gene.iobio v3.0 is out! Simple, clean new look, REVEL scores, variant prioritization across list of candidate genes: gene.iobio.io
This is a really nice upgrade! Takes gene.iobio from a single-gene analysis tool to multi-gene analysis. Also, clean new interface look. xitter.gq/AlistairNWard/status/8…
gene.iobio has had a big upgrade. New interface and lots of new functionality. This post gives a brief summary.
iobio.io/2017/02/27/gene_2.2…
Looking for a postdoc to develop computational algorithms for circulating tumor DNA analysis. Job ad/instructions: goo.gl/QGi142.
iobio.io tools are now integrated into Galaxy. Read iobio.io/2016/11/02/galaxy-i…. Super excited, been working on this for awhile.
Cool re-use of gene.iobio.io check it out! xitter.gq/AlistairNWard/status/7…
Gabor Marth retweeted
(1/7) Exciting announcement - we've been awarded a NIH STTR grant to make a commercial application on top of the iobio platform
Gabor Marth retweeted
Happy to announce Frameshift has secured NIH small business funding to develop iobio platform goo.gl/ZCQ0lH
gene.iobio.io v2.1 with nice new features! Also updated bam.iobio.io & vcf.iobio.io. All built with dev kit. xitter.gq/AlistairNWard/status/7…
We've released version 2.1 of gene.iobio with loads of new features. See iobio.io/2016/09/22/gene2.1/ for a summary
Gabor Marth retweeted
This work is thanks to the fantastic interaction between clinicians and translational researchers at @UUtah xitter.gq/JulieCKiefer/status/76…
LISTEN- @aaronquinlan @USTARGenetics is in the house! His #genomics tool GEMINI is uncovering causes of #RareDisease healthcare.utah.edu/the-scop…
Gabor Marth retweeted
chromosome ordering in broad bundle:
"... chrM appears first instead of last."
because, why not? software.broadinstitute.org/…
#bioinformatics