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Fairlie Reese @fairlie.bsky.social · Jul 18

Happy to see the ENCODE4 long-read RNA tracks now up on UCSC! Thank you to Jeltje, Mark, and any others at UCSC for working to make this happen 🤩

👉 Read the preprint: www.biorxiv.org/content/10.1...

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Nature @nature.com · Jun 16

A US judge has ordered hundreds of terminated research projects at the US National Institutes of Health to be reinstated, calling the processes that led to their cancellation “bereft of reasoning”.

https://go.nature.com/4kOmXDy

Judge rules against NIH grant cuts — and calls them discriminatory

The decision means that the US biomedical agency has to restore funding to hundreds of research projects, but the government will likely appeal.

go.nature.com

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Niema Moshiri @niema.net · Jun 6

The University of California and California State University systems are two of the pinnacles of American academia. This, plus all the other attacks on scientific funding, make it clear Trump wants to just concede all of the scientific and medical excellence of the USA to the rest of the world 🤷‍♂️🙃

Carl T. Bergstrom @carlbergstrom.com · Jun 6

"Sources said the administration is specifically considering a full termination of federal grant funding for the University of California and California State University systems."

Pure vandalism.

This could never happen in a country with functioning checks and balances.

Trump preparing large-scale cancellation of federal funding for California, sources say | CNN Politics

The Trump administration is preparing to cancel a large swath of federal funding to California, an effort which could begin as soon as Friday, according to multiple sources.

www.cnn.com

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Jose Miguel Ramirez @ramirezjmiguel.bsky.social · May 28

Just got back from Milan after attending #ESHG2025. I had a great time presenting our poster and seeing so much interest in our preprint on calling rDNA variants: shorturl.at/p1D0C. Huge thanks to everyone who stopped by, asked questions, and shared insights. Let’s keep the conversation going! 🧬

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European Society of Human Genetics @eshg.bsky.social · May 27

ESHG2025# Early Career awards:
For outstanding science presented at the conference

- Allison Newman, Exeter, UK
- Hristiana Lyubenova, Berlin, Germany
- Robin J. Hofmeister, Lausanne, Switzerland
- Pau Clavell-Revelles, Barcelona, Spain

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Winona Oliveros @oliveroswinona.bsky.social · May 5

Excited to share our new preprint: The impact of sex, age, and genetic ancestry on DNA methylation across tissues. Briefly, we explored how sex, age, and genetic ancestry shape DNA methylation across tissues and individuals. Want to know a bit more? Follow this “bluetorial”!
doi.org/10.1101/2025...

The impact of sex, age, and genetic ancestry on DNA methylation across tissues

Background: Understanding the consequences of individual DNA methylation variation is crucial for the study of human biology and disease. However, the collective impact of demographic traits on DNA me...

www.biorxiv.org

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Melé Lab @melelab.bsky.social · May 23

📢Menopause affects half the population — yet it's been one of the most overlooked areas in aging research.
We found that aging in the female reproductive system unfolds in unexpected, organ-specific ways. 🔗 www.biorxiv.org/content/10.1...
1/8🧵

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Arun Das @arun-das.bsky.social · May 15

Our pre-print on investigating variation in South Asian genomes is now out!

Thank you to @mikeschatz.bsky.social, @rajivmccoy.bsky.social and @aabiddanda.bsky.social for all their work on this.

🧵 A thread on the key results and takeaways from our work:

bioRxiv Genomics @biorxiv-genomic.bsky.social · May 15

Assembling unmapped reads reveals hidden variation in South Asian genomes https://www.biorxiv.org/content/10.1101/2025.05.14.653340v1

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Fairlie Reese @fairlie.bsky.social · May 16

Congratulations! Super cool to talk to you about this project at BoG!

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Guigó Lab @guigolab.bsky.social · May 14

Our lab had dual presence at #BoG25 @cshlmeetings.bsky.social!
🧬 Silvia González-López spoke on chromatin dynamics & transcriptional regulation.
🌍 @fairlie.bsky.social presented ancestry-aware gene annotations — a @guigolab.bsky.social × @melelab.bsky.social collab:
www.biorxiv.org/content/10.1...

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Human Pangenome Reference Consortium @humanpangenome.bsky.social · May 12

📢 HPRC Release 2 is here!

Now with phased genomes from 200+ individuals, a 5x increase from Release 1.

Explore sequencing data, assemblies, annotations & alignments in our interactive data explorer ⬇️:

humanpangenome.org/hprc-data-re...

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Fairlie Reese @fairlie.bsky.social · May 11

This was such a cool idea!

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Kaia Mattioli @kaiamattioli.bsky.social · May 11

had an awesome time at my first Biology of Genomes; what a privilege to be able to share my work with such a kind, smart, and welcoming group of folks. cannot wait to come back!!

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Hospital del Mar Research Institute @researchmar.bsky.social · Apr 9

A #bloodtest for early detection of #Alzheimer's disease

A study involving more than 1,700 people from five hospitals in Barcelona, Sweden and Italy has validated the usefulness of a biomarker in blood to detect Alzheimer's disease in the clinical setting

www.researchmar.net/news/716/a-b...

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Kristoffer Vitting-Seerup @kvittingseerup.bsky.social · Apr 2

The Genetics research community has a problem. Most recent articles do not consider #splicing/isoforms.

Here, we analyze how important this opportunity gap is - and spoiler warning - we find it is essential for both analysis of common and rare variants

More info👇

www.medrxiv.org/content/10.1...

Beyond the Gene in Genetics: How Isoform-Resolved Analysis Empowers the Study of Both Common and Rare Genetic Variation

Genetics is rapidly deepening our understanding of human health and disease by investigating common and rare genetic variants and their influence on gene expression1,2. Alternative splicing is a molec...

www.medrxiv.org

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Fairlie Reese @fairlie.bsky.social · Mar 21

I’m so excited to share the work I’ve been part of from the first year of my postdoc at the @melelab.bsky.social. We analyze a long-read RNA-seq dataset derived from genetically-diverse samples. To see what we found please read the thread below! 😁

Melé Lab @melelab.bsky.social · Mar 20

Do you work in 💫human genetics💫?
Have you ever worried about what’s inside your gene annotation GTF⁉️

WELL, YOU SHOULD! 😱
Especially when studying a genetically diverse 🌍 cohort!

🔴We discover that gene annotations are European-biased 👉 impacting downstream analyses!

Don't miss this thread🧵⬇️
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Long-read transcriptomics of a diverse human cohort reveals widespread ancestry bias in gene annotation

Accurate gene annotations are fundamental for interpreting genetic variation, cellular function, and disease mechanisms. However, current human gene annotations are largely derived from transcriptomic...

www.biorxiv.org

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npujol.bsky.social @npujol.bsky.social · Mar 17

📢 Excited to share our study in @natmedicine.bsky.social
👉 www.nature.com/articles/s41...
We mapped & characterized genetic risk factors for 42 female reproductive health diagnoses. What we found & why it matters? 👇🧵

Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses - Nature Medicine

This study provides a cross-trait atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses.

www.nature.com

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Mike Schatz @mikeschatz.bsky.social · Mar 18

Still processing what this means. www.statnews.com/2025/03/17/t...

Eric Green is out as head of National Human Genome Research Institute

The longtime director of the National Human Genome Research Institute is stepping down, as the larger NIH braces for more changes.

www.statnews.com

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bioRxiv Genomics @biorxiv-genomic.bsky.social · Mar 17

Long-read transcriptomics of a diverse human cohort reveals widespread ancestry bias in gene annotation https://www.biorxiv.org/content/10.1101/2025.03.14.643250v1

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Fairlie Reese @fairlie.bsky.social · Mar 18

🥰🥰🥰

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Jacob Schreiber @jmschreiber91.bsky.social · Mar 14

As a field, I believe we must move towards COMIC SANS logo plots immediately.

nbviewer.org/github/saket...

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Ana Conesa @anaconesa.bsky.social · Mar 4

Thrilled to see our Perspective on long-read transcriptomics Published in Advance in @genomeresearch.bsky.social, with #AdamFrankish and @carolinamonzo.bsky.social. We discuss the opportunities and challenges of LRS to uncover Transcript Divergence and for Genome Annotation. tinyurl.com/bdeteu4j

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Eric Topol @erictopol.bsky.social · Mar 1

Francis Collins, the NIH Director for 12 years, led the Human Genome Project and other NIH efforts for 32 years, resigned today. Key words from his resignation letter
www.nytimes.com/2025/03/01/u...

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Fairlie Reese @fairlie.bsky.social · Feb 14

🦅🦅🦅

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Mike Schatz @mikeschatz.bsky.social · Feb 8

Just saw this. NIH is capping indirects at 15%. This will crush so many institutions. grants.nih.gov/grants/guide...

NOT-OD-25-068: Supplemental Guidance to the 2024 NIH Grants Policy Statement: Indirect Cost Rates

NIH Funding Opportunities and Notices in the NIH Guide for Grants and Contracts: Supplemental Guidance to the 2024 NIH Grants Policy Statement: Indirect Cost Rates NOT-OD-25-068. OD

grants.nih.gov

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