Guidelines for releasing a variant effect predictor

By Ben Livesey Joe Marsh and other members of the atlas of Atlas of Variant Effects Alliance alliance 🧬

arxiv.org/abs/2404.10807

Excited to announce our preprint using MAVEs to reduce variant classification disparities in underrepresented populations and demonstrating AI bias in computational predictors for variant classification! (medrxiv.org/content/10.110…) Tweetorial below! (1/25)

🐍✨ We're thrilled to announce that PyCon AU will be happening from 22-26 November in Narrm/Melbourne. Block those dates and plan for a Python extravaganza! #pyconau #PyConAU2024

Congrats to Shawn Fayer ASHG Cotterman Award recipient! ashg.org/membership/awa…

We’ve just been awarded AU$10M from the Medical Research Future Fund to support the development of OurDNA, a new program to increase the inclusion of under-represented communities in genomic research. Here's why I'm excited about this work. 🧵 garvan.org.au/news-events/ne…

Congratulations to Alan Rubin, Amanda Spurdle, Hamish Scott, Belinda Phipson, Paul James, @dougfowler42,
Lea Starita, Chris Hahn, Anna Brown & Cliff Meldrum.
WEHI (Walter and Eliza Hall Institute) Peter Mac Cancer Centre @uw Uni of Adelaide
@NSWHPathology Australian Department of Health and Aged Care

I'm delighted to be leading this project with such a great team. Looking forward to bringing MAVE technology into the clinic here in Australia! Shout out to all my fellow Atlas of Variant Effects Alliance members who are contributing to this mission locally and internationally.

I'm looking for a research officer/post doc to join my newly established group at WEHI. 2 year position, Level A6 - A8 (AUD $91,404 - $98,111). Working on single cell stuff. Please retweet!
seek.com.au/job/55768459?t…

📣 New publication from our group 📰'Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN' Alan Rubin Lea Starita @dougfowler42 Shawn Fayer

JD Long is now @[email protected] I'm afraid this glorious bit has not ever been recorded 😂

But I can give you a better link to use:
speakerdeck.com/jennybc/how-to…

(if I had known how many 👀 these slides would receive, I would made them a bit more polished)

Very proud (and nervous) to announce my first podcast!! We are getting scientists, doctors and comedians to talk about COVID and vaccines to help the vaccine hesitant with the info they might be looking for. Follow The Jab Gab Podcast to find out when the next first episode drops.

The current state scientific journals...

Excited for our sister NHGRI Center at UW, which will focus on scaling up and applying technologies developed by our CMAP investigators @dougfowler42 Stan Fields Alan Rubin Frederick (Fritz) Roth Jay Shendure Christine Queitsch Cole Trapnell Judit Villen

@dougfowler42 and I are excited to announce the Center for Actionable Variant Analysis 🍾 has been funded by the NHGRI and the IGVF consortium. CAVA will apply multiplex assays of variant effect developed UW Genome Sciences to clinically relevant genes 1/7

Here's my review in Human Molecular Genetics on the latest and greatest multiplex assays for linking human variants to disease phenotypes.

academic.oup.com/hmg/advance-ar…

There is still time to register for Wednesday's #UMCCRSeminar :Alan Rubin from WEHI (Walter and Eliza Hall Institute) as he presents: Understanding the functional consequences of every single mutation in Your Favourite Gene
REGISTER >> mdhs.unimelb.edu.au/centre-for-can…

Genetics

Additional reports from colleagues that some are also unable to see Vic vaccination hub wait times using certain browsers and/or devices. Given that this could potentially be a barrier to access for some, are the relevant agencies aware? Raf Epstein Dr Vyom Sharma

Today is the first day of the Feder lab UW Genome Sciences. We're studying rapid evolutionary dynamics in viruses and tumors, and we're hiring! Please spread the word! More info here: federlab.github.io