manueltard.bsky.social
@manueltard.bsky.social
Reposted
We have some awesome PhD studentships available at the BHF Centre of Research Excellence @vpd-hlri.bsky.social @cambridgeuni.bsky.social! Please do get in touch if interested.

Check them out here: www.jobs.cam.ac.uk/job/49483/

Application deadline: Jan 16th
BHF CRE interdisciplinary PhD studentships in cardiovascular sciences (non-clinical) - Job Opportunities - University of Cambridge
BHF CRE interdisciplinary PhD studentships in cardiovascular sciences (non-clinical) in the Department of Public Health and Primary Care at the University of Cambridge.
www.jobs.cam.ac.uk
December 6, 2024 at 12:28 PM
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Just a reminder that you can add '-ai' to your google search and it will not show you any AI-generated overviews!
December 3, 2024 at 2:41 AM
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Serological evidence for SARS-CoV-2-like viruses in Sunda pangolins, likely reflecting the wildlife trade. Again exposes the idiocy of the "pangolin papers" accusations. I and others have even been accused of faking the pangolin data. bmcbiol.biomedcentral.com/articles/10....
Serological evidence of sarbecovirus exposure along Sunda pangolin trafficking pathways - BMC Biology
Background Early in the coronavirus disease 2019 (COVID-19) pandemic, Sunda pangolins (Manis javanica) involved in the illegal wildlife trade in mainland China were identified as hosts of severe acute...
bmcbiol.biomedcentral.com
November 28, 2024 at 12:41 AM
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Atoms are binary. They are either intended to be hydrogen or helium. We can't just scrap this worldview just because of a handful of exceptions
November 28, 2024 at 1:02 PM
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Vaccines work.
jama.com JAMA @jama.com · Nov 28
Cervical cancer mortality in US women younger than 25 years significantly declined between 2016 and 2021, likely due to the widespread adoption of HPV vaccination.

ja.ma/4i9ghPC
November 28, 2024 at 8:26 AM
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"From bacterial operons to gene therapy: 50 years of the journal Cell", by Tom Maniatis.
www.cell.com/cell/fulltex...
From bacterial operons to gene therapy: 50 years of the journal Cell
Recombinant DNA technology has profoundly advanced virtually every aspect of biological and medical sciences, from basic research to biotechnology. Here, I discuss conceptual connections linking funda...
www.cell.com
November 18, 2024 at 4:49 PM
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If you miss TweetDeck and other multicolumn apps and want a similarly good experience on BlueSky, @deck.blue is a really nice option (and the solo developer @gildaswise.com who built it is looking for work if anyone is hiring).
November 15, 2024 at 5:42 AM
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A thread with some new starter packs in genomics and bioinformatics 🧵 1/13...
November 15, 2024 at 9:56 AM
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Looks quite useful! PharmFreq: a comprehensive atlas of ethnogeographic allelic variation in clinically important pharmacogenes. academic.oup.com/nar/advance-...
November 14, 2024 at 11:57 AM
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Every time I update my slides to talk about RNU4-2 / ReNU syndrome I have to update this screenshot. The group is growing so fast!

It is such a powerful and heartwarming demonstration of the importance of a genetic diagnosis to enable families to find community and support 🥹
November 14, 2024 at 1:39 PM
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Multimodal scanning of genetic variants with base and prime editing

www.nature.com/articles/s41...
Multimodal scanning of genetic variants with base and prime editing - Nature Biotechnology
Thousands of rare oncogene variants are evaluated using multimodal gene editing screens.
www.nature.com
November 12, 2024 at 4:18 PM
Reposted
www.medrxiv.org/content/10.1...

Leveraging genetic ancestry continuum information to interpolate PRS for admixed populations

@pnatarajanmd.bsky.social group presents DiscoDivas, a generalizable polygenic risk score framework across the continuous genetic ancestry spectrum
Leveraging genetic ancestry continuum information to interpolate PRS for admixed populations
Calculating optimal polygenic risk scores (PRS) across diverse ancestries, particularly in admixed populations, is necessary to enable equitable genetic research and clinical translation. However, the...
www.medrxiv.org
November 11, 2024 at 6:41 PM
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A consensus variant-to-function score to functionally prioritize variants for disease
www.biorxiv.org/content/10.1...

Great work by Kushal Dey's lab on an ensemble approach that integrates diverse V2F scores to prioritize causal variants in GWAS loci. #ENCODE4
A consensus variant-to-function score to functionally prioritize variants for disease
Identifying and functionally characterizing causal disease variants in genome-wide association studies remains a pressing challenge. Here, we construct a consensus variant-to-function (cV2F) score tha...
www.biorxiv.org
November 11, 2024 at 6:35 PM
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Meet the team!!

Four of our wonderful team will be presenting in this afternoons poster session. Please go say hello and chat to them about their work. I may be biased, but they are all awesome!

#ASHG24 #ASHG2024
November 6, 2024 at 5:49 PM
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These bluesky starter packs are a great idea. Welcome to all new followers!

If ur unfamiliar with our lab, we do a lot in human genomics & bioinformatics (polygenic scores & disease risk, multi-omics for aetiology, software/resources for the community)

Check out www.inouyelab.org/home/publica...
Inouye Lab - Publications
Google Scholar Inouye Lab authors * denotes equal contribution
www.inouyelab.org
November 7, 2024 at 10:20 AM
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This is a beautiful paper led by Christel Depienne and Caroline Nava, further characterising ReNU syndrome (caused by variants in the snRNA RNU4-2) and identifying the role of RNU5B-1 in neurodevelopmental disorders: www.medrxiv.org/content/10.1...

🧬🖥️ #RNAbiology

Some highlights 🧵
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Variants in RNU4-2, encoding the small nuclear RNA (snRNA) U4, were recently identified as a major cause of neurodevelopmental disorders (ReNU syndrome). Here, we investigated de novo variants in 50 s...
www.medrxiv.org
October 9, 2024 at 9:37 AM
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The Polygenic Score Catalog (www.pgscatalog.org) is an open resource for the global community

Check out how we've made PGSs even more Findable, Accessible, Interoperable and Re-usable (FAIR), including a new PGS calculator with ancestry normalisation www.nature.com/articles/s41...
PGS Catalog - The Polygenic Score Catalog
The Polygenic Score (PGS) Catalog is an open database of published PGS and the relevant metadata needed to apply and evaluate them correctly.
pgscatalog.org
October 2, 2024 at 6:42 PM