New in @Nature! “GREGoR: Accelerating Genomics for Rare Diseases” highlights how the GREGoR Consortium is advancing rare disease discovery through data sharing, multi-omics, and next-gen sequencing across 7,500 individuals in 3,000 families. 🧬nature.com/articles/s41586-0…

Sharing our study on exploring penetrance in over 800,000 individuals from gnomAD, now in Nat. Com. A good read if you're curious why some presumed rare disease–causing variants —especially loss-of-function variants— are tolerated in the general population nature.com/articles/s41467-0…

I'm looking forward to attending #PSB26 (Pacific Symposium on Biocomputing) on the Big Island of Hawaii and helping to organize the Precision Medicine session. Reminder that you have until August 1st to submit your conference paper. psb.stanford.edu/

Looking forward to the next season of CAGI and understanding our strengths and areas for improvement in genomic interpretation!

Save the date! Join us #AnVILCommunityConference2025 on September 4-5, 2025 in Nashville, TN. We’ll start with a Networking Event on the evening of September 3, 2025. Dive into genomic data science and cloud computing with scientific talks, poster sessions, and CoFest!

A new, rare genetic disorder is the 1st human disease caused by loss of one copy of a long noncoding RNA gene. The family of Emma Broadbent, the first person diagnosed with the CHASERR-related disorder, was instrumental in the discovery & her diagnosis. broad.io/Chaserr

We’re thrilled to announce the publication of SpliceVarDB: A comprehensive database of experimentally validated human splicing variants in @AJHGNews 🧬 📖 cell.com/ajhg/fulltext/S0002… #splicing #GeneChat

So excited that our paper “De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome” is out today in @Nature nature.com/articles/s41586-0… 🧵 1/16

Excited to share our work on the diagnostic power of genome sequencing when directly assessing cases with exome data - 8% additional yield - if we analyze genomes as more than an exome. Thanks @HereAtMonica @RamiAbouJamra @HeidiRehm and Broad CMG @GREGoR_research collaborators!

So incredibly happy for super 🌟 DPhil student @quenchentin for winning an early career award for his @eshg2024 presentation. So well deserved 👏🎉

Excited to share GeniE, a new tool for calculating genetic prevalence of recessive disorders, led by @SamBaxterCGC, important contributions from many on the team, and partnership with @czi and #rareasone

Enjoyed telling the stories of some great human genetics papers published in the first quarter of this year. The field is moving fast, and many exciting works are getting out every day. I enjoy curating papers that together paint a big picture of the field's progress and sharing them in social media, blogs and podcasts. It's gratifying to see that many benefit from reading and listening to things that I share. I had the privilege to appear on The Genetics Podcast (I am a big fan) hosted by @patrick_j_short in 2022 and 2023 to talk about the most interesting stories published in the respective years. Inspired by the many positive feedbacks, this year, the Sano Genetics team has invited me to do a quarterly round up to help others keep up with the fast-growing human genetics literature. The first one is out now. The main theme of this round up is 'noncoding variants', but I also talk about emerging new approaches in GWAS to dissect the disease biology. Under the topic of noncoding variants, I chose three exciting papers that I liked so much. These papers hint us that we will see more fascinating discoveries based on noncoding genome this year and upcoming ones. The first one is a paper (nature.com/articles/s41586-0…) published in Nature by @EKFarley and colleagues on an elegant mechanism through which certain transcription factors control tissue-specific expression of their targets with extraordinary specificity (x.com/doctorveera/status/174…). The second one is a preprint by @VGaneshMDPhD, @AnneOtation and colleagues on a remarkable discovery of a noncoding de novo mutation that deletes a lncRNA (CHASERR) and overshoots the expression of a nearby gene CHD2 resulting in a neurodevelopmental disorder (x.com/VGaneshMDPhD/status/17…). This is one of the rarest examples to date to shed light on the mechanics of the lncRNA mediated transcriptional control and their therapeutic potential. Another such example is lncRNA mediated imprinting of UBE3A, which is now exploited to treat Angelman syndrome (x.com/doctorveera/status/168…). The third one is my favorite: a preprint by @roddywalsh, @cbezzina1 and colleagues on the discovery of a South-East Asians-enriched noncoding variant as major genetic cause of Brugada syndrome (x.com/doctorveera/status/175…). There is an absolutely fascinating backstory behind this discovery. The final one is a paper published in Nature Medicine by @miriam_udler and colleagues on a creative analysis that disentangles the results of a massive type 2 diabetes GWAS and shed lights on ancestry-specific enrichment of biological pathways. Many great insights to appreciate from this amazing work (x.com/doctorveera/status/176…) More such roundups are planned this year. Many thanks to @patrick_j_short and @sanogenetics team for the opportunity. It's inspiring to see Patrick's dedication to science communication, and I am grateful to be able to play a tiny role in that.

gnomAD 4.1 is now live! This release fixes the AN issue in #gnomAD v4.0 & adds 2 new functionalities: 1) Joint AN across all called sites in exomes and genomes 2) A flag indicating when exomes and genomes frequencies are highly discordant Learn more at broad.io/gnomad_v4-1

Thrilled to share our latest discovery on a spliceosomal snRNA gene causing neurodevelopmental disorders: medrxiv.org/content/10.1101/… Thank you to everyone who contributed; it’s been a phenomenal effort to collaborate with clinicians and researchers for what would help many families!

📢New from @AnneOtation & colleagues 📰 Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease @broadinstitute @MantonCenter cell.com/ajhg/abstract/S0002…