HGSC congratulates all 2024 awardees! ashg.org/publications-n…

As part of GREGoR Consortium , we are excited to announce new guidance to encourage clinical labs to report novel candidate genes during clinical testing. We give criteria for triaging, sharing, and reporting novel genes through various methods. authors.elsevier.com/c/1jcDA3vlFV4E…

Beyond excited to share that my first-author paper on Saturation Genome Editing of RAD51C is now published in Cell! Immensely proud of this enormous team effort, led by Andrew Waters and David Adams 1/8 cell.com/cell/fulltext/…

#ASHG2024 highlights - annual Lupski lab reunion, Jim’s Lifetime Achievement Award, non-stop snow, and great science!

Well here I am making good on my promise to Rebeca Olvera-León that if her paper got published then I would dye my hair purple ;). Cell Press

Paper came out this past week! Using MAVEs to reduce variant classification disparities in underrepresented populations and demonstrating AI bias in computational predictors for variant classification rdcu.be/d2kCn Previous tweetorial: x.com/MoezDawood/sta…

📢 Check out the preprint of the GREGoR Research Consortium Marker paper! arxiv.org/abs/2412.14338 See our collaborative approach to accelerating diagnoses and diversifying genomics through data generation and sharing, innovative computational methods, and deep phenotyping.🧬

What if one variant can cause splicing outliers transcriptome-wide? Our preprint shows how examining transcriptome-wide patterns of splicing outliers can both diagnose individuals with rare spliceopathies and uncover a novel disease-gene relationship! (medrxiv.org/content/10.110…)

Dr. Richard Gibbs of BCM HGSC takes the stage at #AGBT25 to discuss somatic mosaicism and its role in missing heritability. #AGBTGM BCMHouston

Discover how genetics and genomics are advancing digital medicine with Dr. Richard Gibbs from @BaylorMed at PNRI’s FREE virtual Science Matters Seminar. Register now: events.zoom.us/ev/AiPGWt1c7yR… Seattle MCB Program

Nice example of how genome sequencing through GREGoR Consortium rendered unexpected diagnoses in undiagnosed patients. Who would have thought Walker-Warburg syndrome would turn out to be a ciliopathy (OFD1)? Wish I could be at #mdaconference! Appreciate the support of Muscular Dystrophy Association.

At #ACMG25? 🧬 Don't miss Moez Dawood presenting "GREGoR: Accelerating Genomics for Rare Diseases" Friday 3/20 at 1:30pm PST Platform Session 8 Preprint here: pubmed.ncbi.nlm.nih.gov/39764392/ #Genomics #Research #Collaboration GREGoR Consortium

cell.com/ajhg/fulltext/…

It is with heavy hearts that we share the passing of Dr. Samantha Garza. In honor of Sam's life, we invite you to donate in her memory to fund brain tumor research. Thank you to everyone who supported Sam throughout her battle. We love you forever, Sam. gofund.me/94b84c9b

✅ Published in nature today, the paper describing the initial whole-genome sequencing analysis of 500,000 UK Biobank participants. nature.com/articles/s4158…