#NHGRI
I guess I still call myself a scientist in my bio, so...

Hey, I'm Shannon. PhD - studied olfaction at UC Berkeley. Postdoc - studied zebrafish lateral line regeneration (mechanosensory cells analogous to hair cells that transduce hearing) at NHGRI. Created NIH-wide trainee ethics course at OITE.
November 6, 2026 at 3:53 AM
I joined NHGRI! It’s been a big change. :)
November 3, 2026 at 12:54 AM
In today's @bcmgenetics.bsky.social Seminar Series,
Christopher Grochowski, Ph.D. welcomes Dr. Neil Hanchard, M.B.B.S., D.Phil (NHGRI) who discusses “African Genomes and Pediatric Health: From H3Africa to HIV to Hypertension.” #Genomics #GlobalHealth #PediatricResearch #DiversityInGenomics 🧬🌍
November 3, 2026 at 7:40 PM
Join NHGRI on Friday, October 30, for a pre-application webinar on upcoming IGVF funding opportunities.

Learn about program goals, objectives, and the application review process, with a Q&A session to follow.

Submit questions and learn more: grants.nih.gov/news-events/...
National Human Genome Research Institute (NHGRI) IGVF Pre-Application Webinar | Grants & Funding
grants.nih.gov
October 28, 2026 at 9:31 PM
Tumour DNA disappearing from blood tracked with longer event-free survival in NeoCOAST-2. A useful risk signal 🧪
doi.org/10.1038/s415...
#Immunotherapy
October 26, 2026 at 10:22 AM
We’re starting #ASHG26! It’s my 33rd year here, unbelievably. CEO Amanda Perl is welcoming the group and my new boss, NHGRI Director Judy Cho.
October 20, 2026 at 8:32 PM
Pamela Ganschow, MD, our Director for Cancer Prevention & Survivorship Clinical Programs, is featured in UIC Today for leading UIC's clinical research group within the Population Genomic Screening Network, a national initiative funded by the NHGRI. https://bit.ly/4sgjsu9
October 21, 2026 at 11:50 PM
NHGRI GREGoR Program Director, Dr. Lisa Chadwick will be at #ASHG26!

Stop by the NHGRI/NIH booth Wednesday, 10-11 am, and Friday, 2-4 pm, to chat with her.
October 20, 2026 at 5:41 PM
NHGRI leadership will also be giving a status update for our research community, and answering questions, Thursday, 10-11 am in 517BC.
October 20, 2026 at 5:41 PM
Leveraging genomic deep learning models for the prediction of noncoding variant effects
Welter, D. et al. The NHGRI GWAS Catalog, a curated resource of SNP–trait associations. Nucleic Acids Res. 42, 1001–1006 (2014). Cano-Gamez, E. & Trynka, G. From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases. Front. Genet. 11, 424 (2020). Zappala, Z. & Montgomery, S. B. Non-coding loss-of-function variation in human genomes. Hum. Hered. 81, 78–87 (2016). Adzhubei, I. A. et al. A method and server for predicting damaging missense mutations. Nat. Methods 7, 248–249 (2010). Ioannidis, N. M. et al. REVEL: an ensemble method for predicting the pathogenicity of rare missense variants. Am. J. Hum. Genet. 99, 877–885 (2016). Cheng, J. et al. Accurate proteomewide missense variant effect prediction with AlphaMissense. Science 381, 7492 (2023). Pejaver, V. et al. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria. Am. J. Hum. Genet. 109, 2163–2177 (2022). Rentzsch, P., Witten, D., Cooper, G. M., Shendure, J. & Kircher, M. CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Res. 47, 886–894 (2018). Ghandi, M., Lee, D., Mohammad-Noori, M. & Beer, M. A. Enhanced regulatory sequence prediction using gapped k-mer features. PLOS Comput. Biol. 10, e1003711 (2014). Lee, D...
www.nature.com
October 22, 2026 at 12:57 AM
Long-COVID symptoms may be linked to bacterial mix in the mouth, lungs

The oral microbiota is significantly less diverse in people with severe persistent symptoms than in those with mild symptoms.

Read more: https://bit.ly/4B8w62s

📷: NIH / NHGRI / Flickr cc
October 12, 2026 at 9:09 PM
That's a founder mutation. NHGRI defines the founder effect as the reduction in genomic variability that happens when a small group of individuals becomes separated from a larger population. A small group carries a small sample of the variety in the original one. (2/8)
October 13, 2026 at 1:00 PM
The company exclusively licensed the electrophoresis-based technology from Roche and has received NHGRI funding to optimize it for FFPE samples.
Vellum Biotech Commercializing Nucleic Acid Extraction Method From Roche
Vellum Biotech Commercializing Nucleic Acid Extraction Method From Roche
ebx.sh
October 1, 2026 at 2:54 AM
📣 New on the ELSIconnect Job Board:
🔹 Postdoctoral Scholar @ University of Washington: Ethical & social aspects of emerging biomedical technologies
🔹 Postdoctoral Fellow @ NHGRI/NIH: Behavioral science, health communication & genomics

Explore on ELSIconnect: connect.elsihub.org/c/job-forum
September 16, 2026 at 10:30 PM
In Memoriam: Daniel L. Kastner, MD (1951–2026) rupress.org/jhi/article/...
In Memoriam: Daniel L. Kastner, MD (1951–2026)
Dr. Daniel L. Kastner, former Scientific Director of NHGRI, was a visionary physician-scientist whose discoveries transformed the understanding of innate i
rupress.org
September 11, 2026 at 7:11 PM
Dr. Daniel Kastner, former NHGRI Scientific Director, was a visionary physician-scientist whose discoveries transformed the understanding of innate immunity and established the modern field of autoinflammatory diseases. Gupta, Goldbach-Mansk & Aksentijevich pay tribute: rupress.org/jhi/article/...
September 11, 2026 at 4:00 PM
Dr. Daniel Kastner, former NHGRI Scientific Director, was a visionary physician-scientist whose discoveries transformed the understanding of innate immunity and established the modern field of autoinflammatory diseases. Gupta et al. pay tribute @jhumimmunity.org: rupress.org/jhi/article/...
September 11, 2026 at 4:30 PM
Instead of the Trump White House’s bad ideas to destroy peer review and steer money to their friends, what we and Congress should be doing right now is building a Public AI Institute at NIH much like the Genome Project/NHGRI.

Give it resources to compete w the private labs.
September 10, 2026 at 9:41 PM
Mitochondrial DNA Variant Interpretation Project Wins $3.1M NHGRI Grant
Mitochondrial DNA Variant Interpretation Project Wins $3.1M NHGRI Grant
Led by Nicole Lake at Yale School of Medicine, the project will build new models to improve the identification of pathogenic mitochondrial variants.
ebx.sh
September 10, 2026 at 9:01 PM
Very proud of @einsteinmededu.bsky.social MSTP student Chynna Smith, just awarded a 2026-2027 ASHG @geneticssociety.bsky.social Scholarship.

Chynna is a superstar in the making, working on a polycreodism model of osteoporosis.

www.ashg.org/membership/a...

Congratulations Chynna!
Human Genetics Scholars
ASHG in partnership with NHGRI, Biogenand Roche are pleased to recognize this year’s Scholars.
www.ashg.org
August 28, 2026 at 2:35 PM
Congratulations to Deanne Nixie Miao on being selected for the Human Genetics Scholars Initiative!

Deanne is one of only four international applicants selected for this year’s cohort, an incredible achievement and recognition of her research and potential as an emerging leader in human genetics.
August 27, 2026 at 9:42 PM
Also stoked because my former boss - the Institute Director at NHGRI - who is a massive Cardinals fan, is also an insanely entitled egomaniac. It feels good to know he's being humbled right now by Baltimore.
August 26, 2026 at 1:30 AM
On our last day, the lab ran a pop-up coffee shop for our NHGRI colleagues, staffed by our own highly experienced baristas Suhani and Serge. Farewell NIH! Thanks for being a great home for the past 11 years 🥲 Watch for our next pop-up at Hopkins once we get properly equipped 😁
August 24, 2026 at 9:14 PM
IIRC from my time at NHGRI it’s the second- or third-most inbred population in terms of genetic conditions, although behind the Saudis. People need to marry out more!
August 21, 2026 at 1:07 AM