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Hena Jose

@henajose.bsky.social
252 followers 381 following 41 posts

Bioinformatician | Genomics | Data Analyst #genomics #computationalbiology #dataanalysis #python #R

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Reposted by Hena Jose
Simon Fisher @profsimonfisher.bsky.social · 17/11/2025
Advances in genomics are giving exciting new perspectives on biology of speech, language & reading. My latest peer-reviewed paper is a tutorial, guiding readers from different backgrounds through the history of the field, current state-of-the-art, & where we’re heading. A taster in this thread.🧪 1/n
pubs.asha.org
Genomic Investigations of Spoken and Written Language Abilities: A Guide to Advances in Approaches, Technologies, and Discovery
Purpose: The aim of this tutorial is to show how the rise of molecular technologies and analytical methods in human genetics yields exciting new ...
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Hena Jose @henajose.bsky.social · 06/10/2025
They understood how the immune system is kept in check Mary E. Brunkow, Fred Ramsdell and Shimon Sakaguchi are awarded the Nobel Prize in Physiology or Medicine 2025 for their groundbreaking discoveries concerning peripheral immune tolerance www.nobelprize.org/prizes/medic...
nobelprize.org
Nobel Prize in Physiology or Medicine 2025
The Nobel Prize in Physiology or Medicine 2025 was awarded to Mary E. Brunkow, Fred Ramsdell and Shimon Sakaguchi “for their discoveries concerning peripheral immune tolerance.”
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Hena Jose @henajose.bsky.social · 21/08/2025
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...
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Anita Leirfall @anitaleirfall.bsky.social · 07/08/2025
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)
scientificamerican.com
No, You Can’t Design Your Baby—And Trying Would Be a Terrible Idea
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
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Hena Jose @henajose.bsky.social · 14/07/2025
Biobank-scale genomic research projects from around the globe www.the-innovation.org/article/doi/...
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Hena Jose @henajose.bsky.social · 11/06/2025
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...
gimjournal.org
Data-driven consideration of genetic disorders for global genomic newborn screening programs
Over 30 international studies are exploring newborn sequencing (NBSeq) to expand the range of genetic disorders included in newborn screening. Substantial variability in gene selection across programs...
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Reposted by Hena Jose
Daniel Hoffmann 🌼 @danielhoffmann.eurosky.social · 16/05/2025
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...
nature.com
World’s first personalized CRISPR therapy given to baby with genetic disease
Treatment seems to have been effective, but it is not clear whether such bespoke therapies can be widely applied.
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Hena Jose @henajose.bsky.social · 07/05/2025
An atlas of tissue-specific protein-protein associations helps to prioritise targets for drug discovery www.ppiatlas.com?ref=blog.ope...
ppiatlas.com
PPI Atlas
Web site created using create-react-app
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Reposted by Hena Jose
Nature @nature.com · 22/04/2025
Computer scientists and bioinformaticians address four key questions to help rookie coders to make the right choice go.nature.com/42UuoT3
go.nature.com
Which programming language should I use? A guide for early-career researchers
Computer scientists and bioinformaticians address four key questions to help rookie coders to make the right choice.
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Hena Jose @henajose.bsky.social · 21/04/2025
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)
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Reposted by Hena Jose
Science bytes @dnascience.bsky.social · 16/04/2025
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...
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Hena Jose @henajose.bsky.social · 09/04/2025
Cepheid and Oxford Nanopore collaboration to look into infectious disease first nanoporetech.com/news/cepheid...
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Hena Jose @henajose.bsky.social · 07/04/2025
A great study where monogenic and polygenic studies converges
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Reposted by Hena Jose
Chemistry World @chemistryworld.com · 24/03/2025
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
chemistryworld.com
The circles of DNA that cause cancer
Ring-shaped extrachromosomal DNA is implicated in many cancers. Rachel Brazil talks to the scientists trying to uncover their secrets
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Reposted by Hena Jose
ᐯIᑕTOᖇ ᑎIᘔET, ᗰᗪ @nizet.bsky.social · 26/03/2025
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/...
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Hena Jose @henajose.bsky.social · 24/03/2025
For the first time, researchers have used the CRISPR gene editor to repair AAT gene in the human body. www.science.org/content/arti...
science.org
Gene editing fixes DNA—and treats incurable lung and liver disease
A promising clinical trial marks another milestone for the CRISPR gene editor
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Reposted by Hena Jose
Larry Hunter @proflhunter.bsky.social · 18/03/2025
Computational biology XKCD!
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Hena Jose @henajose.bsky.social · 05/03/2025
One of those truly multiomic studies. Get to see sQTL, eQTL, pQTL, mQTL connect genetic etiology across molecular traits and health outcomes
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Reposted by Hena Jose
Randall Munroe @xkcd.com · 26/02/2025
RNA xkcd.com/3056
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Reposted by Hena Jose
Nature Portfolio @natureportfolio.nature.com · 23/02/2025
Synthetic biologists discuss with Nature why it’s so hard to write a genome. “We underestimated how complex biology is.” 🧪 🧬
go.nature.com
Why is it so hard to rewrite a genome?
Synthetic biologists have the know-how and ambition to retool whole genomes. But the hidden complexity of biological systems continues to surprise them.
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Hena Jose @henajose.bsky.social · 21/02/2025
SBX technology utilizes a proprietary biochemical conversion process to expand and encode the sequence of a DNA template into an Xpandomer molecule.
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Reposted by Hena Jose
Lara Muffley @muffley.bsky.social · 15/02/2025
#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
The image showcases three separate podcast advertisement banners placed vertically. Each banner contains artwork on the left and text on the right. The top banner features a digital illustration of a double helix with scientific imagery and human figures on a teal background. The text reads "Variant Effect What?" for a podcast released on May 16. The middle banner, on a red background, depicts a circular illustration with intricate biological designs and a central glowing orb. The text states "Melanoma And Variant Effects: beyond sunscreen," dated June 6. The bottom banner, set on a teal background, presents another double helix with molecular designs. The text says "Your genes on drugs: context matters!" released on September 20.
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Hena Jose @henajose.bsky.social · 13/02/2025
Simultaneous single-cell CRISPR, RNA, and ATAC-seq enables multiomic CRISPR screens to identify gene regulatory relationships www.biorxiv.org/content/10.1...
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Hena Jose @henajose.bsky.social · 07/02/2025
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...
prnewswire.com
Chan Zuckerberg Initiative Launches Billion Cells Project with 10x Genomics and Ultima Genomics to Advance AI in Biology
/PRNewswire/ -- Today, the Chan Zuckerberg Initiative (CZI) launched the Billion Cells Project, an effort to generate an unprecedented one billion cell dataset...
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Reposted by Hena Jose
Saez-Rodriguez Group @saezlab.bsky.social · 05/02/2025
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...
Graphical abstract of BioChatter
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Reposted by Hena Jose
Matthew Bernstein @matthew-bernstein.bsky.social · 04/02/2025
Check out my recent talk on dimensionality reduction, where I try to lay out my thoughts on the topic: youtu.be/AuJzMnH78wM?...
youtu.be
Controversies & Challenges in Dimensional reduction and Vizualization in Single Cell Experiments
YouTube video by PANORAMICS - A Vision
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Hena Jose @henajose.bsky.social · 31/01/2025
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...
bbc.com
How the discovery of the DNA structure has changed our lives
Geneticist Sir Paul Nurse on the amazing breakthroughs that followed the discovery of DNA - and how it directly impacted his own family.
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Hena Jose @henajose.bsky.social · 28/01/2025
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
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Reposted by Hena Jose
Ensembl @ensembl.org · 27/01/2025
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!
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Anshul Kundaje @anshulkundaje.bsky.social · 23/01/2025
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Hena Jose @henajose.bsky.social · 21/01/2025
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...
cell.com
Metagenome-informed metaproteomics of the human gut microbiome, host, and dietary exposome uncovers signatures of health and inflammatory bowel disease
A metagenome-informed metaproteomics approach unravels the interplay between the host, gut microbiome, and diet in animal models as well as in human cohorts and identifies disease biomarkers of dysbio...
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Reposted by Hena Jose
Nick Desnoyer @nickdesnoyer.bsky.social · 12/12/2024
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)
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Alex Hoischen @ahoischen.bsky.social · 14/01/2025
And now including our press release @radboudumc.bsky.social www.radboudumc.nl/en/news-item...
radboudumc.nl
Long Reads Successfully Used to Find Genetic Causes of Rare Diseases
14 January 2025
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Hena Jose @henajose.bsky.social · 14/01/2025
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-...
nvidianews.nvidia.com
NVIDIA Partners With Industry Leaders to Advance Genomics, Drug Discovery and Healthcare
NVIDIA today announced new partnerships to transform the $10 trillion healthcare and life sciences industry by accelerating drug discovery, enhancing genomic research and pioneering advanced healthcar...
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Hena Jose @henajose.bsky.social · 06/01/2025
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...
roche.com
Roche | African Genomics Program
An ambitious collaboration of African researchers, non-profit organisations, and the private sector seeks to accelerate genomic research on the continent.
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Reposted by Hena Jose
Jame Abraham, MD, FACP @jameabraham.bsky.social · 05/01/2025
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
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Twist Bioscience @twistbioscience.com · 02/01/2025
Great list! Love seeing progress in cancer, preventing HIV, and CAR-T in the @statnews.com article. By @matthewherper.bsky.social apple.news/ArmBm3oYRT1G...
apple.news
The biggest medical advances of 2024 — STAT
It’s easy to forget that we live in an age of medical wonders. Cancer tumors can be slowed or shrunk in ways previous generations couldn’t imagine, with everything from pills to genetically engineered...
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Hena Jose @henajose.bsky.social · 27/12/2024
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...
nature.com
How to win a Nobel prize: what kind of scientist scoops medals?
What subjects have past winners studied? What age were they when they won? Where do they live? Nature crunched the data on every science prizewinner to find out.
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Reposted by Hena Jose
Gabby Palomo, PhD @gabspalomo.bsky.social · 26/12/2024
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.
phylopic.org
PhyloPic
PhyloPic is an open database of free silhouette images of animals, plants, and other life forms, available for reuse under Creative Commons licenses. Download silhouettes for use in educational materi...
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Luciano Martelotto @lgmartelotto.bsky.social · 27/12/2024
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...
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Matthew D. Pollard @pollardmd.bsky.social · 23/12/2024
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
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Shicheng Guo @shihcheng.bsky.social · 25/12/2024
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...
doi.org
EpiGePT: a pretrained transformer-based language model for context-specific human epigenomics - Genome Biology
The inherent similarities between natural language and biological sequences have inspired the use of large language models in genomics, but current models struggle to incorporate chromatin interaction...
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Reposted by Hena Jose
Apollo @apollo.jbrowse.org · 20/12/2024
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...
apollo.jbrowse.org
Apollo 3 Genome Annotation Editor - Beta Release | Apollo
Thank you to all those who have shown an interest in Apollo 3, our tool for
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Sasha Gusev @sashagusevposts.bsky.social · 18/12/2024
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.
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Broad Institute @broadinstitute.org · 10/12/2024
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
youtu.be
Spatial -omics: "Location, location, location" applies to biology, too
YouTube video by Broad Institute
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Larry Hunter @proflhunter.bsky.social · 14/12/2024
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...
frontiersin.org
Frontiers | Added sugar intake and its associations with incidence of seven different cardiovascular diseases in 69,705 Swedish men and women
IntroductionThe adverse health effects of sugar-sweetened beverage intake are well-established, but the implications of overall added sugar intake remain unc...
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Carl Zimmer @carlzimmer.com · 12/12/2024
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
nyti.ms
A ‘Second Tree of Life’ Could Wreak Havoc, Scientists Warn (Gift Article)
Research on so-called mirror cells, which defy fundamental properties of living organisms, should be prohibited as too dangerous, biologists said.
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David Martínez Millán @dmartmillan.bsky.social · 12/12/2024
🎉 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...
academic.oup.com
OpenVariant: a toolkit to parse and operate multiple input file formats
AbstractSummary. Advances in high-throughput DNA sequencing technologies and decreasing costs have fueled the identification of small genetic variants (suc
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Magdalena Skipper @magdalenaskipper.bsky.social · 09/12/2024
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...
nature.com
Nature’s 10: the people who helped shape science in 2024
A fraud buster, a nuclear-clock maker and a virus hunter. These are just a few of the remarkable people chosen for this year’s Nature’s 10.
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Pradeep Natarajan @pnatarajanmd.bsky.social · 30/11/2024
Our review led by @jsdron.bsky.social of the contributions of the Global Lipids Genetics Consortium (www.lipidgenetics.org) journals.lww.com/co-lipidolog...
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