Hena Jose
@henajose.bsky.social
Bioinformatician | Genomics | Data Analyst
#genomics #computationalbiology #dataanalysis #python #R
#genomics #computationalbiology #dataanalysis #python #R
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...
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...
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.”
www.nobelprize.org
October 6, 2025 at 11:21 AM
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...
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...
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...
x.com/NatureRevGen...
August 21, 2025 at 8:00 AM
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...
x.com/NatureRevGen...
Reposted by Hena Jose
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)
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)
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
www.scientificamerican.com
August 7, 2025 at 9:48 AM
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)
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/...
www.the-innovation.org/article/doi/...
July 14, 2025 at 3:01 PM
Biobank-scale genomic research projects from around the globe
www.the-innovation.org/article/doi/...
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...
www.gimjournal.org/article/S109...
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...
www.gimjournal.org
June 11, 2025 at 6:52 AM
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...
www.gimjournal.org/article/S109...
Reposted by Hena Jose
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...
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.
www.nature.com
May 16, 2025 at 5:03 AM
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...
www.ppiatlas.com?ref=blog.ope...
PPI Atlas
Web site created using create-react-app
www.ppiatlas.com
May 7, 2025 at 5:47 AM
An atlas of tissue-specific protein-protein associations helps to prioritise targets for drug discovery
www.ppiatlas.com?ref=blog.ope...
www.ppiatlas.com?ref=blog.ope...
Reposted by Hena Jose
Computer scientists and bioinformaticians address four key questions to help rookie coders to make the right choice
https://go.nature.com/42UuoT3
https://go.nature.com/42UuoT3
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.
go.nature.com
April 22, 2025 at 3:58 PM
Computer scientists and bioinformaticians address four key questions to help rookie coders to make the right choice
https://go.nature.com/42UuoT3
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)
Nature research paper: Translational genomics of osteoarthritis in 1,962,069 individuals
https://go.nature.com/4juvSsT
https://go.nature.com/4juvSsT
Translational genomics of osteoarthritis in 1,962,069 individuals - Nature
A genome-wide association study meta-analysis combined with multiomics data of osteoarthritis identifies 700 effector genes as well as biological processes with a convergent involvement of multiple effector genes; 10% of these genes express the target of approved drugs.
go.nature.com
April 21, 2025 at 6:02 AM
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)
Reposted by Hena Jose
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...
April 16, 2025 at 7:57 AM
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...
nanoporetech.com/news/cepheid...
April 9, 2025 at 6:33 PM
Cepheid and Oxford Nanopore collaboration to look into infectious disease first
nanoporetech.com/news/cepheid...
nanoporetech.com/news/cepheid...
A great study where monogenic and polygenic studies converges
April 7, 2025 at 8:00 AM
A great study where monogenic and polygenic studies converges
Reposted by Hena Jose
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
#ChemSky
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
www.chemistryworld.com
March 24, 2025 at 10:48 AM
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
#ChemSky
Reposted by Hena Jose
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/...
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/...
March 26, 2025 at 1:36 AM
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/...
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...
www.science.org/content/arti...
Gene editing fixes DNA—and treats incurable lung and liver disease
A promising clinical trial marks another milestone for the CRISPR gene editor
www.science.org
March 24, 2025 at 5:42 AM
For the first time, researchers have used the CRISPR gene editor to repair AAT gene in the human body.
www.science.org/content/arti...
www.science.org/content/arti...
Reposted by Hena Jose
Computational biology XKCD!
March 18, 2025 at 1:50 AM
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
📣 New from the lab: The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes www.nature.com/articles/s41...
Check out the INTERVAL RNAseq portal www.intervalrna.org.uk
Led by @alextokolyi.bsky.social & Elodie Persyn!
Check out the INTERVAL RNAseq portal www.intervalrna.org.uk
Led by @alextokolyi.bsky.social & Elodie Persyn!
March 5, 2025 at 6:15 AM
One of those truly multiomic studies. Get to see sQTL, eQTL, pQTL, mQTL connect genetic etiology across molecular traits and health outcomes
Reposted by Hena Jose
Reposted by Hena Jose
Synthetic biologists discuss with Nature why it’s so hard to write a genome. “We underestimated how complex biology is.” 🧪 🧬
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.
go.nature.com
February 23, 2025 at 11:42 PM
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.
Roche’s Fantasy Sequencer Slowly Turning Into a Fantastic Reality
#sequencing #nanopore #genomics
sandiegomics.com/roches-fanta...
#sequencing #nanopore #genomics
sandiegomics.com/roches-fanta...
Roche’s Fantasy Sequencer Slowly Turning Into a Fantastic Reality
After 10+ years of mostly silence, Roche is finally starting to lift the curtain on their nanopore sequencer. It’s based on a combination of Genia’s nanopore platform (acquired in 2014) and Stratos…
sandiegomics.com
February 21, 2025 at 5:10 AM
SBX technology utilizes a proprietary biochemical conversion process to expand and encode the sequence of a DNA template into an Xpandomer molecule.
Reposted by Hena Jose
#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
February 15, 2025 at 3:41 PM
#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...
www.biorxiv.org/content/10.1...
February 13, 2025 at 6:32 AM
Simultaneous single-cell CRISPR, RNA, and ATAC-seq enables multiomic CRISPR screens to identify gene regulatory relationships
www.biorxiv.org/content/10.1...
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...
www.prnewswire.com/news-release...
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...
www.prnewswire.com
February 7, 2025 at 6:33 AM
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...
www.prnewswire.com/news-release...
Reposted by Hena Jose
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...
February 5, 2025 at 9:15 AM
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...
Reposted by Hena Jose
Check out my recent talk on dimensionality reduction, where I try to lay out my thoughts on the topic: youtu.be/AuJzMnH78wM?...
Controversies & Challenges in Dimensional reduction and Vizualization in Single Cell Experiments
YouTube video by PANORAMICS - A Vision
youtu.be
February 4, 2025 at 2:43 AM
Check out my recent talk on dimensionality reduction, where I try to lay out my thoughts on the topic: youtu.be/AuJzMnH78wM?...