Do you analyze NIH data in a compliant system? AnVIL could be your solution! Join our next AnVIL Demo on Nov 19 at 10 am ET to learn how AnVIL meets the new security requirements under the Genomic Data Sharing Policy. ✏️ Sign up for AnVIL Demos here: bit.ly/anvil-demos

🏓 Great news! The early-bird registration discount for Hope on the Court has been extended to Nov 17. Join the Dec 7 #pickleball tournament benefiting families affected by Arginase 1 Deficiency. Play for fun or for medals — all ages welcome! Register: hopeonthecourt.com #RareDiseaseAwareness #ARG1D

Amazing work from Daniel, Fritz and team! Paper: www.science.org/doi/10.1126/... Variant effect map review: www.nature.com/articles/s41... Cardiovar consortium: www.genomeweb.com/research-fun... Atlas of variant effect maps: www.mavedb.org

So excited about this new work from our CardioVar consortium out this week in Science led by the amazing Daniel Tabet and @fritzroth.bsky.social. www.science.org/doi/10.1126/

The credit for this honor goes to my team and the incredible environment here at Stanford University. I am so grateful for the opportunities that this special place has afforded me.

🗓️Abstract Deadline Extended to December 1st, 2025! #VariantEffect26 ℹ️https://www.mss2026.org

October is #HealthLiteracyMonth! 🧠 Simple, trusted info on cell and gene therapies is just a click away: patienteducation.asgct.org

Trio-barcoded @nanoporetech.com Adaptive Sampling (TBAS) to improve #RareDisease diagnostic at less than 1/2 the $$ & high cov: 76% solve rate across 13 trios inc. two corrections from prev. diagnosis. www.medrxiv.org/content/10.1... @gregor-research.bsky.social @bcmhgsc.bsky.social #Research

We investigated Constellation from Illumina @bcmhgsc.bsky.social for rare disease cases @gregor-research.bsky.social from @bcmhouston.bsky.social. We tested HG002-4 & sequenced 21 families. We could detangle complex SV & other interesting findings described here: www.medrxiv.org/content/10.1...

Heading to the poster session Friday afternoon at #ASHG25? Stop by Dr. Laurens van de Wiel's (@laurensvdwiel.bsky.social) poster to learn more about: "ESMO-MD: Evolutionary Scale Model Optimized on Meta-Domains learns human protein domain embeddings for variant effect prediction" Poster 4033F

Heading to the poster session Friday afternoon at #ASHG25? Stop by Dr. Georgia Pitsava's poster to learn more about: "Long-read Genome Sequencing Resolves Genetic Cases Missed by Short-read Sequencing" Program ID: 4069F #RareDisease #Research

Day ✌️ of poster sessions is underway in the exhibit hall! Missed coming to the hall yesterday? No worries — today’s lineup is completely new! Come for science, stay for inspiration. 📲Browse our poster selection here: https://pheedloop.com/ASHG25/ #ASHG25

Dr. Laurens van de Wiel (@laurensvdwiel.bsky.social) presents: "MetaDome 2.0: Aggregation of genetic variants across homologous human protein domains improves variant impact investigation" #ASHG25 Thursday afternoon poster 4109T #RareDisease #Research

Andres Rivera-Munoz & Dr. Moez Dawood (@moezdawood.bsky.social) present: "A plug-and-play, user-friendly platform to annotate and analyze variants from omics sequencing" #ASHG25 Thursday afternoon poster 2043T #RareDisease #Research @bcmhouston.bsky.social

Paul Petrowski presents: "The GREGoR multiomics report: web application that integrates disparate omics results into a unified interface" #ASHG25 Thursday afternoon poster 8023T #RareDisease #Research

Dr. Shruti Pande (@bcmhouston.bsky.social) presents: "Haploinsufficiency of RNPS1, a Component of the Exon Junction Complex, Causes a Developmental Disorder with Skeletal Anomalies" #ASHG25 Thursday afternoon poster 2004T #RareDisease #Research

Jialan Ma presents: "Detecting Aberrant RNA Splicing Events for Rare Disease Diagnosis" #ASHG25 Thursday afternoon poster 4038T #RareDisease #Research

@nikigogate.bsky.social (@bcmhouston.bsky.social) presents: "Multi-omics framework for diagnosing NAXE deficiency" #ASHG25 Thursday afternoon poster 4099T #RareDisease #Research.

Dr. Daniel Calame (@bcmhouston.bsky.social) presents: "Dysfunction of the cationic amino acid transporter SLC7A1 causes autosomal recessive spastic cerebral palsy & hereditary spastic paraplegia" #ASHG25 Thursday afternoon poster 7003T #RareDisease #Research

Shaghayegh Beheshti (@bcmhouston.bsky.social) presents: "Reframing Septo-Optic Dysplasia as a Pathway-Defined Disorder: Insights from a Clinically and Genetically Diverse Cohort" #ASHG25 Thursday afternoon poster 7042T #RareDisease #Research

We just wrapped up our Ancillary Session, and now it's poster time this afternoon at #ASHG25! Many @gregor-research.bsky.social members will be presenting their work in Thursday's poster session. Check them out: gregorconsortium.org/events/grego...

Attend Thursday morning's #ASHG2025 talk to hear Dr. @leandrosboukas.bsky.social share his work at 11 am: "Identification of de novo variants from parent-proband duos via long-read sequencing" #RareDisease #Research

We're starting day three of #ASHG25 strong w/ the morning block of platform sessions! Not sure what to see? Check out this session, 'Human Diversity and Evolution,' highlighting recent progress in the study of ancient DNA and varied human populations: https://t.co/2JPtSIcbcZ https://t.co/RS2i8xLXHl

🚨Don't miss the GREGoR Consortium's Ancillary Session at #ASHG25 on Thursday at 11:45 am. Featuring: Dr. Ben Heavner, Dr. Alex Wagner (@alexphd.bsky.social) & Dr. Mike Schatz (@mikeschatz.bsky.social) #RareDisease #Research

We're live at #ASHG2025! Don't forget to check out SMaHT member presentations, happening this week.

We're live at #ASHG2025! Don't forget to look out for HPRC member presentations, happening this week.

Heading to the poster session Wednesday afternoon at #ASHG25? Stop by Dr. Christina Tise's poster to learn more about: "KATNA1 Deep Intronic Pentanucleotide AAAAT Repeat Expansion in Recurrent Triploidy of Maternal Origin" Program ID: 2001W #RareDisease #Research

Heading to the poster session Wednesday afternoon at #ASHG25? Stop by Dr. Lindsay Romo's poster to learn more about: "Annotation of Noncoding Regulatory Elements Enables Diagnosis of Rare Disease" Program ID: 4110W #RareDisease #Research

Check out posters from the Baylor Genetics Team at #ASHG25 Halls A & B 2:30 p.m. - 4:30 p.m. ET Wed: Maddie Gillentine PhD & Weimin Bi, PhD; Thurs: Darwin Argueta, MS, CGC, NIkhita Gogate PhD, & Mei Ling Chong, PhD; Friday: Rob Rigobello, MS, CGC, Keri Callegari, PhD, & Haowei Du, Msc, PhD #ASHG2025

Attend Wednesday afternoon's #ASHG25 talk to hear Dr. Marsha Wheeler share her work at 2:15 pm: "Sharing valuable rare disease and multiomic data through the GREGoR Consortium" Session 28 #RareDisease #Research

Attend Wednesday afternoon's #ASHG25 talk to hear Chloe Munderloh (@bcmhouston.bsky.social) share her work at 2:00 pm: "A multi-omic diagnostic framework leveraging long-read sequencing for unsolved rare disease" Session 27 #RareDisease #Research

Oops - WED poster correction 🧬🧠🧬 WEDNESDAY 10/15 4027W Genome seq in unsolved epilepsy @sohamsg90.bsky.social **8062W** a new repeat expansion locus as a potential cause for epilepsy @cwlaflamme.bsky.social (presented by Dianne Laboy)

We’re so excited with this accomplishment of fastest genome sequencing. Major efforts from BCL and Roche to make this happen. Can’t wait to launch this service clinically so patients can benefit! Paper here www.nejm.org/doi/full/10....

Day 2 of #ASHG25 kicks off with Featured Symposia! Check out "From Data to Diagnosis: Advancing Rare Disease Research through Collaborative Genomics" to learn how large-scale genomic resources are transforming rare disease diagnosis: https://bit.ly/46Sn8ct #ASHG25

🧬Looking forward to a busy #ASHG25! Plenty of @gregor-research.bsky.social members will be attending and sharing their work! Don't forget to sign up for the Ancillary Session on Thursday: gregorconsortium.org/events/grego...

🚨Don't miss our Featured Symposium at #ASHG25 "From Data to Diagnosis: Advancing Rare Disease Research through Collaborative Genomics" Wed. at 8:30 am. Featuring @cgrochowski.bsky.social, @sbmontgom.bsky.social, @jonasagustafson.bsky.social, @ksamocha.bsky.social & Andrew Rivera-Munoz Session 14

It’s time for #ASHG25 in Boston! Exited for a great week of 🧬 superb science, collaborative conversations, fun with friends, and some good seafood 🐟 !!

👀🔖 Check out this new review by @prsmethods.bsky.social member Iftikhar Kullo, which explores the current state of the field, highlights key challenges, and outlines future directions for the use of PRSs to improve risk prediction and to advance personalized prevention in clinical care

Be sure to check out our monthly Seminar Series! 🔹Upcoming speakers www.varianteffect.org/seminar-seri... 🔹Previous speakers www.varianteffect.org/previous-sem... #Seminar #Series #Science #FunctionalGenomics

We're live at #ASHG2025! IGVF members are presenting across multiple sessions this week. Check out where to find us and come say hi in Boston! 👋🏽

Attending #ASHG25? Learn how @prsmethods.bsky.social investigators are improving polygenic risk prediction in diverse populations by visiting these talks and posters docs.google.com/spreadsheets...

🎉Welcome to #ASHG25! We’re excited for five days full of sessions, networking, and inspiration. 📱Pro tip: Download our mobile app for easy access to the schedule, maps, and updates: https://pheedloop.com/ASHG25/ Let’s make this an unforgettable experience—explore, connect, and share your journey!

Going to #ASHG25? Don’t miss our FREE interactive workshop on Investigating Non-Coding Regions with SCREEN and Factorbook. Wed Oct 15 @ 11:45 am, Room 104C (level 1) 🧬 Lunch included! 🧬

#ASHG2025 kicks off next week! Keep an eye out for IGVF presentations and posters throughout the meeting. See you in Boston!

Next week, we're headed to #ASHG2025! HPRC members will be sharing their latest research and insights throughout the week. See who's presenting ⬇️

🌏 🧬 Join the global functional genomics community in Melbourne this March for MSS26! The 9th Annual Mutational Scanning Symposium #VariantEffect26 runs March 25–27, 2026 at the Aikenhead Centre for Medical Discovery. Abstract submissions are open and will close 2 November 2025. www.mss2026.org

Welcome to day two of the GA4GH 13th Plenary meeting. Our Plenary live stream starts in one hour. Visit the GA4GH YouTube Channel to tune in to today’s programme: buff.ly/t2NWRKY

🧠 Curious what’s happening under the tentorium? Join us Oct 8 (12–1pm PT) for Science Matters with Dr. Dan Doherty of @uwdeptmedicine.bsky.social and Seattle Children’s exploring how the #hindbrain develops and what happens when it doesn’t. Register: bit.ly/4gXQTfn #Neuroscience #JoubertSyndrome

Variant Effects Seminar Series October and November lineup! Join us! ℹ️https://www.varianteffect.org/seminar-series/

GA4GH is working to build a complete picture of all known DRS servers worldwide 🌐! If your platform or project runs one or more DRS servers, please register or update your entry here: