Clinical variant scientist at Mayo Clinic, genomic annotation/KBs, MPseq, RNAseq, CMA, tumor boarding, #BoyMom, volleyball, opinions are mine🧬 🏐
Rochester, MN
Joined April 2016
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Calling all cancer genomics professionals!
Are you an expert willing to share experience/skills through our collaboration with ClinGen/VICC/ACMG?
Share a unique case or concept with us at our Free CME series!
⬇️
Fill out the intake form, and our team will contact you with next steps!
docs.google.com/forms/d/e/1F…
Vote for Aaron on America’s Favorite Student. The grand prize winner gets to meet Bill Nye the science guy!!
americasfavstudent.org/2026/…
Pre-proof is out! We used RNAseq to characterize solid tumors with atypical FISH results. @mayocliniclabs sciencedirect.com/science/ar…
On today’s VICC VMTB call, Dr. Soulafa Mamlouk discussed the use of tumoroids to study a tumors evolution from primary to metastasis to recurrence of a metastasis. @cancervariants @ChariteBerlin
Recorded session is now on our YouTube channel: youtu.be/UFT6tSLS6Ks
If you missed the VICC VMTB call this week, please feel free to tune into the recording on our YouTube channel.
Till Hartmann from Charite in Berlin gave a talk on a fast and efficient variant effect annotation tool, Mehari!
youtu.be/SMgYt_HyYbU?si=GFpV…
youtu.be/dFhOsW3eSuI?si=4Ee_…
At today’s VICC VMTB meeting, Dr. Alper Uzun, director of cancer bioinformatics at @BrownUniversity presented a publicly available VCF visualization tool, Variant Graph Craft (VGC)
Check out the video on YouTube! @cancervariants
Beth Pitel retweeted
Happy to announce our new web resource for laboratory geneticists: the Geneticist Toolkit! 🧬 Created by CGC volunteers with a wealth of experience, it helps you analyze data and utilize resources effectively. Check it out here: cancergenomics.org/geneticis…
Missing all my @CG_Consortium friends already, and looking forward to Houston next year! It’s been real, St. Louis! #CGCAnnual2024
❤️🧬
@Wes_Goar shirt report:
Sat: 🌶️
Sun: 🦩
Mon: 🐈⬛
Tues: 🏝️
Wed: ???
Come to my poster to learn about publicly available chatbots for cancer variant interpretation, and stay for the AI-generated poetry. Scan the QR code on my poster to read 4 poems generated by 4 chatbots, and vote on your favorite! ❤️🧬
@CG_Consortium #CGCAnnual2024
Fireside chat (without the fire) with Sheryl Elkin from @QIAGENBiox @NofOne and @RavindraKolhe9 talking candidly about the workflow gains with the use of QCI-II.
One of a few fantastic tertiary analysis products at #CGCAnnual2024 @CG_Consortium
I’m not going to tell anyone what to use, but if you’re looking for a product for interpretation, talk to the vendors here from @QIAGENBiox @velseraofficial @SOPHiAGENETICS to see what fits into your practice.
The vendors here are great assets to our community.
Happy Anniversary of this wonderful birthday prank, Kori Kuzma! Wish this guy, @HandlerWagner, a happy birthday.
Man in cat shirt presents on cats.
Just kidding. @Wes_Goar categorizes variants in accordance with published guidelines, saving time for the clinical interpretation team. #CGCAnnual2024 @CG_Consortium
For those tracking Wes’ shirt choices:
Sat: 🌶️
Sun: 🦩
Mon: 🐈⬛
Cam Grisdale presents my favorite figure in the context of knowledgebase use in Personalized OncoGenomics. #CGCAnnual2024 @CG_Consortium
Xinyan Lu presented on behalf of the myeloid working group. An Unconference group meeting yesterday came to the same conclusion on a need for result summary statements.
Great use and display of survey results! #CGCAnnual2024 @CG_Consortium
Dr. Alan Rubin had a double presentation today at the workshop and first keynote. I’m hopeful that the adoption of MAVEs will resolve many VUSes. @CG_Consortium #CGCAnnual2024
Random guy in flamingo shirt @Wes_Goar joined the keynote presentation for flair…
There isn’t a better place for the #CGCAnnual2024 than the site of the world’s most famous SV junction! @CG_Consortium
