Technological advances typically punctuate accelerated discovery in biomedical science, and the past decade has been exemplary regarding breakthroughs in our genomic understanding of human biology in health and disease x.com/NatureRevGen...

The Myth of the Designer Baby A genomics firm saying they can help parents with “genetic optimization” of their embryos is tone-deaf Silicon Valley marketing trampling over legitimate science. Parents should be wary. www.scientificamerican.com/article/why-... (h/t @justincaouette.bsky.social)

Biobank-scale genomic research projects from around the globe www.the-innovation.org/article/doi/...

Among 27 NBSeq programs, only 74 (1.7%) genes included by over 80% of programs. Substantial variability in gene selection across programs exists, highlighting the need for a systematic approach to prioritize genes. www.gimjournal.org/article/S109...

When science fiction becomes science fact: in a triumph of science based personalized therapy a baby with a unique fatal #genetic disease was saved by a bespoke #CRISPR approach. Unthinkable 20 years ago. www.nature.com/articles/d41...

An atlas of tissue-specific protein-protein associations helps to prioritise targets for drug discovery www.ppiatlas.com?ref=blog.ope...

Computer scientists and bioinformaticians address four key questions to help rookie coders to make the right choice https://go.nature.com/42UuoT3

Implicates 700 effector genes and highlight eight biological processes including the circadian clock, glial-cell-related processes and pathways with an established role in osteoarthritis (TGFβ, FGF, WNT, BMP and retinoic acid signalling, and extracellular matrix organization)

Scientists have developed CIPDEL, a new GENE EDITING method using Cas12a’s unique DNA-cutting ability to enhance gene editing precision. New dawn to safer medical therapies, improved crops, and more efficient research tools. doi.org/10.1186/s130...

Cepheid and Oxford Nanopore collaboration to look into infectious disease first nanoporetech.com/news/cepheid...

A great study where monogenic and polygenic studies converges

Back in 1962, DNA circles were first spotted in cancer cells. Now, armed with modern molecular biology and genomics tools, researchers are realising that these circles might explain why some cancers are more lethal than others. #ChemSky

Today for the first time in decades, a new oral antibiotic to treat urinary tract infections was approved by the FDA Gepotidacin is a triazaacenaphthylene that inhibits bacterial DNA replication by targeting DNA gyrase and topoisomerase IV Trade name? BLUJEPA® !!! www.gsk.com/en-gb/media/...

For the first time, researchers have used the CRISPR gene editor to repair AAT gene in the human body. www.science.org/content/arti...

Computational biology XKCD!

One of those truly multiomic studies. Get to see sQTL, eQTL, pQTL, mQTL connect genetic etiology across molecular traits and health outcomes

RNA xkcd.com/3056

Synthetic biologists discuss with Nature why it’s so hard to write a genome. “We underestimated how complex biology is.” 🧪 🧬

SBX technology utilizes a proprietary biochemical conversion process to expand and encode the sequence of a DNA template into an Xpandomer molecule.

#RareDiseaseDay (coming up on Friday, February 28, 2025) is a day dedicated to raise awareness of rare diseases and the people they affect. Tune in to this amazing podcast series that delves into the science behind mapping variants in diseases and rare diseases. www.varianteffect.org/podcast

Simultaneous single-cell CRISPR, RNA, and ATAC-seq enables multiomic CRISPR screens to identify gene regulatory relationships www.biorxiv.org/content/10.1...

CZI is partnering with an initial cohort of experts in the single-cell field and developers of lifescieence tech. This partnership prioritizes data generation with initial data sets including organisms such as mouse, zebrafish, and primary human cell models. www.prnewswire.com/news-release...

Applying LLMs to biomedical research today can go one of two ways: we either use a closed-source web app, or we get coding ourselves. Many researchers lack training for the latter, so their only choice is the former. We want to change that. www.nature.com/articles/s41...

Check out my recent talk on dimensionality reduction, where I try to lay out my thoughts on the topic: youtu.be/AuJzMnH78wM?...

Geneticist Sir Paul Nurse on the amazing breakthroughs that followed the discovery of DNA - and how it directly impacted his own family. www.bbc.com/videos/cg4yy...

This is a real instance of dissecting existing data to derive new insights Great work by European Molecular Biology Lab The temporal profiles retrospectively constructed for novel drug targets approved over the past two decades suggest the importance of genetic support for clinical progression

Ensembl is 25! 🥳 Join us in celebrating our silver birthday by trying out our new browser - beta.ensembl.org 🎂 Silver carp 🩶🐟 and silvery gibbon 🩶🦧 genomes await!

Metagenome-informed metaproteomics of the human gut microbiome, host, and dietary exposome uncovers signatures of health and inflammatory bowel disease www.cell.com/cell/abstrac...

This year, with a bit of breeding and CRISPR, I upgraded the roses to be larger and more beautiful ✨ These look like a completely different species, but have the genetic backbone of Arabidopsis 😎 (5/7)

And now including our press release @radboudumc.bsky.social www.radboudumc.nl/en/news-item...

IQVIA, Illumina, Mayo Clinic and Arc Institute Harness NVIDIA AI and Accelerated Computing to Transform $10 Trillion Healthcare and Life Sciences Industry nvidianews.nvidia.com/news/nvidia-...

Why focus on genomic research in Africa? Despite 99% of human evolutionary history having occurred in Africa and the majority of genetic diversity present in people of African descent, less than 3% of global genomic datasets come from individuals of African origin. www.roche.com/stories/afri...

Wonderful to see out of 50 drugs approved by @fda.gov in 2024, nearly 20 drugs are for blood and cancer diagnosis! It is promising news for our patients. Applaud the focus on cancer research by industry and academia! @oncoalert.bsky.social

Great list! Love seeing progress in cancer, preventing HIV, and CAR-T in the @statnews.com article. By @matthewherper.bsky.social apple.news/ArmBm3oYRT1G...

Who among them received two Nobel Prizes? Which individual was the oldest recipient of the Nobel Prize? How many female Nobel laureates have there ever been? Finally...What letter did most of their name begin with, A or B? www.nature.com/immersive/d4...

Ok people. I’m drawing silhouettes this afternoon. If you have a paper coming up and you are in need of a #silhouette please let me know and I will have it ready today. As always I upload all my silhouettes to phylopic.org I also have tutorials on how to put a silhouette in a plot in R.

Surprise, surprise! 😳 This raises an important question… How will our @naturemethods 2024 Method of the Year, #SpatialProteomics, will tackle this before it becomes a potential pitfall? Why Bax detection in >1400 publications might be flawed | Cell Death & Disease www.nature.com/articles/s41...

I am so incredibly excited to announce that we made the cover of Genome Research! Check out our work on diet evolution across mammals in the latest issue! @genomeresearch.bsky.social @eepuckett.bsky.social @sorrywm.bsky.social

Check EpiGePT, a breakthrough #Transformer model for human #epigenomics. By using #3Dgenome data & #transcriptionfactor activities, it outshines current models in predicting context-specific signals. A game-changer for unseen cellular contexts! PMID:39696471, Genome Biol 2024 doi.org/10.1186/s130...

We're excited to announce the beta release of the Apollo 3 Genome Annotation Editor! Apollo provides a flexible and modern interface for interacting with your genome annotations. See our blog post for several ways you can try out Apollo. apollo.jbrowse.org/blog/2024/12...

Very cool paper. Something I have always been curious about is the extent to which rare burden trait-specific genes are themselves regulators of pleiotropic genes. I.e. the genes on the bottom are TFs for the variants on the top.

What a cell does depends on its location. Experiments like single cell sequencing strip away signs of where a cell was in its original organ or tissue. New spatial -omics techniques collect in-depth molecular data from cells while retaining that spatial information. Learn more: youtu.be/izhZ9VB1jRM

Once again, careful scientific investigation demonstrates that, unlike soda or sweet spreads, ice cream and chocolate are good for you. @talyarkoni.com www.frontiersin.org/journals/pub...

Over 30 prominent scientists call for a ban on the creation of a "mirror cell"--a microbe made of molecules that are mirror images of their natural forms. It could cause a mind-boggling global disaster. Here's my story [gift link] 🧪https://nyti.ms/3OUCXp6

🎉 I'm thrilled to announce that OpenVariant is finally published! A comprehensive toolkit to facilitate reading, parsing and refinement of diverse input file formats in a customizable structure, all within a single process. @bbglab.bsky.social at @irbbarcelona.bsky.social doi.org/10.1093/bioi...

It’s this time of year again - Nature’s 10 - Ten people who helped shape science in 2024… @natureportfolio.bsky.social www.nature.com/immersive/d4...

Our review led by @jsdron.bsky.social of the contributions of the Global Lipids Genetics Consortium (www.lipidgenetics.org) journals.lww.com/co-lipidolog...

Biobanks support ongoing and future precision medicine research by gaining access to individual-level data for genotype–phenotype mapping efforts, pharmacogenomic studies, polygenic risk score assessments, and rare variant analyses. www.nature.com/articles/s41...?

The Middle East is all buzzing about Genomics. That's what Precision Medicine and Future of Genomics 2024 reveals to me #Genomics