GREGoR Consortium
@GREGoR_research
Discovering causes of rare disease through innovative technology and vigorous collaboration. @NIH-funded. Tweets by Data Coordinating Center @UWBiostat.
In @NatureGenet we report that base editing of trinucleotide repeats (TNRs) reduces somatic repeat expansions in Huntington’s disease (HD) and Friedreich’s ataxia (FRDA)—in patient-derived cells and in vivo—a collaboration with the Mouro Pinto lab. drive.google.com/file/d/1on7kdy… 1/14
New advances are helping scientists detect #DNA changes once overlooked. PNRI’s Carvalho Lab @CMBCarvalho is studying how structural variants—like inversions—may disrupt #genes and contribute to rare diseases. Read the highlights: bit.ly/454JDZF #RareDisease #Genomics
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption medrxiv.org/cgi/content/sh… #medRxiv
Analytical validation of germline small variant detection using long-read HiFi genome sequencing [METHOD] #science #publication #research #publications scientific.today/entries/138623…
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships medrxiv.org/cgi/content/sh… #medRxiv
Celebrating 5 years of @HGGAdvances: Hear from Associate Editor Philip J. Lupo, PhD, MPH: hubs.li/Q03ctJHr0 @GeneticsSociety
Early bird rates end July 28! Join the leaders in genomics & precision medicine at #AGBTPH25 — Sept 8–10 in San Diego. 🌟 Breakthrough science 🤝 Powerful networking 📉 Discounted pricing Register now → hubs.ly/Q03yMdhK0 #PrecisionHealth #Genomics #HealthcareInnovation
Our preprint just got online in the American Journal of Human Genetics sciencedirect.com/science/articl… Many thanks to our postdoctoral fellow Archana Rai @a_rai914 and all the authors @GREGoR_research @kidsfirstDRC @nih_nhlbi @UTHealthSPH @LupskiLab @ShaineMorris1
Our manuscripts of digenic inheritance model for congenital heart laterality defects is out medrxiv.org/content/10.110… Many thanks to Archana Rai @a_rai914 and all the authors @GREGoR_research @kidsfirstDRC @nih_nhlbi @UTHealthSPH @LupskiLab @ShaineMorris1 See 👇 for key findings
Stayed offline too long.. Several key papers came out (thanks to my group & great collaborators), thankful for great consortia meetings, might have a position in my lab opening, new lab homepage: fritzsedlazeck.github.io oh and got tenured (I know perfect timing ;)). Thanks all
Last call for #bioinformatics #hackathon @BCM_HGSC Aug 27-29. Register: fritzsedlazeck.github.io/blog/2025/hack… Projects range from TR, SV to pangenomcs, metagenomics etc. Projects will be published in F1000. With support from @dnanexus @SMaHTnetwork @GREGoR_research #openscience #genomics
A new GA4GH Public Attitudes blog post, written by Dr. Richard Karlsson Linnér (Universiteit Leiden, Netherlands), explores the perceived risks of sharing genomic data with researchers. Read more: ga4gh.org/news_item/the-…
Deadline approaching: submit a poster abstract for the GA4GH 13th Plenary meeting by 30 July 2025! All members of the community are invited to submit an abstract. Learn more and submit a poster abstract: buff.ly/8yvUoWJ
From the western hemisphere to the east 🌐 ... HPRC brings together institutions from across the globe. Though separated by distance, we’re united by one common goal - building a pangenome reference that captures the full scope of human genomic variation.
Coming up! ℹ️varianteffect.org/seminar-series/
Be sure to sign up for our MAVE course! 🗓️ 𝗖𝗼𝘂𝗿𝘀𝗲 𝗱𝗮𝘁𝗲𝘀: November 23-28 (Hinxton, UK) 📩𝗔𝗽𝗽𝗹𝗶𝗰𝗮𝘁𝗶𝗼𝗻 𝗱𝗲𝗮𝗱𝗹𝗶𝗻𝗲: August 18 💸 Financial assistance is available @sangerinstitute 🔗tinyurl.com/MAVEcourse
A more complete understanding of human genetics starts with accurate, high-quality reference genomes. HPRC is building a reference that reflects the breadth of human genetic variation, supporting better prediction, diagnosis, and treatment. Learn more: humanpangenome.org/samples/
Congratulations to Dr. @MoezDawood on his successful defense! Well done.
Catch us on #Bluesky 👋🏽 bsky.app/profile/humanp…
Excited to announce the ClinGen PGx Interpretation Committee's latest paper, “Towards an Integrated Resource for Pharmacogenomics (PGx): Survey Findings from the Genomic Medicine Communities,” now in press! Read more on the ClinPGx blog blog.clinpgx.org/in-press-surve… #pharmacogenomics