Join us at the Donnelly Centre in one week for our next Donnelly #Seminar Series speaker: Job Dekker from HHMI and UMass Chan Medical School! 📅 Thursday, August 10 at 11am ET 📍 Red Seminar Room at Donnelly Centre/Zoom Save Your Spot 👉 bit.ly/DSS_JobDekker

Excited to share our preprint on the Rare Genomes Project (RGP) Critical Assessment of Genome Interpretation (CAGI) challenge, where variant prioritization models from academia and industry went head-to-head to identify rare disease diagnoses from genome sequencing data. 1/

Very excited that our paper is finally out 🎉! Absolute pleasure working with AJHG 😀. Send any Qs our way!

A technical report on an exciting new CNV resource in the UK Biobank based on ~200k exomes by Babadi, Fu, Lee & Smirnov et al. in Nature Genetics today. nature.com/articles/s4158… The authors tweaked the GATK CNV caller to work on whole exomes (in addition to whole genomes) and

The Dept of Human Genetics is hiring computational genomics faculty again this year! Last year we recruited Xiaoxu Yang - please apply to join him and our human, computational, developmental, and evolutionary genetics faculty. Please spread the word! utah.peopleadmin.com/postings/153662

Researchers from CGM at MGH and colleagues find that genome sequencing is shown to be an improved prenatal diagnostic test, in a AJHG study. doi.org/10.1016/j.ajhg…

I think a good rule of thumb is to try and be the kind of scientist that nobody would want to exclude as a reviewer.

Another mess being left to the next generation of Canadians. Some plain talk about research & innovation. Thanks to Stephen Toope and theglobeandmail for this loooooooong piece online now and in print tomorrow. theglobeandmail.com/business/comme…

The new Genome Aggregation Database release is finally here - well ahead of ASHG👏🎉 It has been a monumental effort from to bring this resource to the field. More to come on structural variants later but for now - huge congrats and thank you to all members of the amazing gnomAD team!!

As part of #gnomAD v4, in collaboration with the Talkowski Lab, we have released 1,199,117 genome SVs and 66,903 rare exome CNVs. These data represent the first gnomAD SV dataset released native to the GRCh38 reference genome. (1/2)

Incredibly proud of my PhD supervisor for this remarkable achievement! 🇨🇦

Run, don't walk, to go work with John! 👇

The Donnelly Centre welcomes a new faculty member, Dr. John Morris! 🎉 Dr. Morris joins our experts in functional genomics as an Assistant Professor with a research focus on the connection between human #genetics and #disease. Learn more 👉 uoft.me/JohnMorris

Big shout out to Talkowski Lab for helping generate this new resource for the community 🎉. This effort was led by the incomparable Emma Pierce-Hoffman 👏👑

I have said it before & I will say it again: well-established faculty in the field reaching out to provide unsolicited, generous kudos & advice to first authors of papers (or posters) they read & liked is one of the least onerous & most effective 'pay it forward' acts in science