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Hena Jose

@henajose

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

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27.11.2024
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Latest posts by Hena Jose @henajose

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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 ...

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 weโ€™re heading. A taster in this thread.๐Ÿงช
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17.11.2025 17:52 ๐Ÿ‘ 54 ๐Ÿ” 29 ๐Ÿ’ฌ 1 ๐Ÿ“Œ 3
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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 โ€œfor their discoveries concerning peripheral immune tolerance.โ€

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...

06.10.2025 11:21 ๐Ÿ‘ 0 ๐Ÿ” 0 ๐Ÿ’ฌ 0 ๐Ÿ“Œ 0
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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...

21.08.2025 08:00 ๐Ÿ‘ 1 ๐Ÿ” 0 ๐Ÿ’ฌ 0 ๐Ÿ“Œ 0
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No, You Canโ€™t Design Your Babyโ€”And Trying Would Be a Terrible Idea A genomics firm saying they can help parents with โ€œgenetic optimizationโ€ of their embryos is tone-deaf Silicon Valley marketing trampling over legitimate science. Parents should be wary

The Myth of the Designer Baby

A genomics firm saying they can help parents with โ€œgenetic optimizationโ€ 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)

07.08.2025 09:47 ๐Ÿ‘ 54 ๐Ÿ” 23 ๐Ÿ’ฌ 2 ๐Ÿ“Œ 0
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Biobank-scale genomic research projects from around the globe
www.the-innovation.org/article/doi/...

14.07.2025 15:01 ๐Ÿ‘ 1 ๐Ÿ” 0 ๐Ÿ’ฌ 0 ๐Ÿ“Œ 0
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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...

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...

11.06.2025 06:52 ๐Ÿ‘ 1 ๐Ÿ” 0 ๐Ÿ’ฌ 0 ๐Ÿ“Œ 0
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Worldโ€™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.

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...

16.05.2025 05:03 ๐Ÿ‘ 1 ๐Ÿ” 1 ๐Ÿ’ฌ 0 ๐Ÿ“Œ 0
PPI Atlas Web site created using create-react-app

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

07.05.2025 05:47 ๐Ÿ‘ 0 ๐Ÿ” 0 ๐Ÿ’ฌ 0 ๐Ÿ“Œ 0
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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.

Computer scientists and bioinformaticians address four key questions to help rookie coders to make the right choice

https://go.nature.com/42UuoT3

22.04.2025 15:58 ๐Ÿ‘ 63 ๐Ÿ” 17 ๐Ÿ’ฌ 3 ๐Ÿ“Œ 2

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 (TGFฮฒ, FGF, WNT, BMP and retinoic acid signalling, and extracellular matrix organization)

21.04.2025 06:02 ๐Ÿ‘ 2 ๐Ÿ” 0 ๐Ÿ’ฌ 0 ๐Ÿ“Œ 0
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Scientists have developed CIPDEL, a new GENE EDITING method using Cas12aโ€™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...

16.04.2025 07:57 ๐Ÿ‘ 84 ๐Ÿ” 21 ๐Ÿ’ฌ 2 ๐Ÿ“Œ 0

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

09.04.2025 18:33 ๐Ÿ‘ 1 ๐Ÿ” 1 ๐Ÿ’ฌ 1 ๐Ÿ“Œ 0

A great study where monogenic and polygenic studies converges

07.04.2025 08:00 ๐Ÿ‘ 0 ๐Ÿ” 0 ๐Ÿ’ฌ 0 ๐Ÿ“Œ 0

Amazing to learn how DNA match led to the true culprit

07.04.2025 07:57 ๐Ÿ‘ 1 ๐Ÿ” 0 ๐Ÿ’ฌ 0 ๐Ÿ“Œ 0
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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

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

24.03.2025 10:48 ๐Ÿ‘ 13 ๐Ÿ” 1 ๐Ÿ’ฌ 0 ๐Ÿ“Œ 2
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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? BLUJEPAยฎ !!!

www.gsk.com/en-gb/media/...

26.03.2025 01:36 ๐Ÿ‘ 66 ๐Ÿ” 28 ๐Ÿ’ฌ 3 ๐Ÿ“Œ 4
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Gene editing fixes DNAโ€”and treats incurable lung and liver disease A promising clinical trial marks another milestone for the CRISPR gene editor

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

24.03.2025 05:42 ๐Ÿ‘ 1 ๐Ÿ” 0 ๐Ÿ’ฌ 0 ๐Ÿ“Œ 0

Lungfish has 30 times as much DNA as humans

18.03.2025 05:23 ๐Ÿ‘ 1 ๐Ÿ” 0 ๐Ÿ’ฌ 0 ๐Ÿ“Œ 0

Computational biology XKCD!

18.03.2025 01:50 ๐Ÿ‘ 25 ๐Ÿ” 3 ๐Ÿ’ฌ 1 ๐Ÿ“Œ 0

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

05.03.2025 06:15 ๐Ÿ‘ 3 ๐Ÿ” 1 ๐Ÿ’ฌ 0 ๐Ÿ“Œ 0

Congrats. As someone all ready to get a MK1D for AMR work, may i ask how is your exp working with MK1D for microbe study

03.03.2025 12:02 ๐Ÿ‘ 0 ๐Ÿ” 0 ๐Ÿ’ฌ 0 ๐Ÿ“Œ 0
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RNA xkcd.com/3056

26.02.2025 14:58 ๐Ÿ‘ 17846 ๐Ÿ” 2559 ๐Ÿ’ฌ 154 ๐Ÿ“Œ 171
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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.

Synthetic biologists discuss with Nature why itโ€™s so hard to write a genome. โ€œWe underestimated how complex biology is.โ€ ๐Ÿงช ๐Ÿงฌ

23.02.2025 23:42 ๐Ÿ‘ 57 ๐Ÿ” 12 ๐Ÿ’ฌ 1 ๐Ÿ“Œ 2

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

21.02.2025 05:10 ๐Ÿ‘ 0 ๐Ÿ” 0 ๐Ÿ’ฌ 0 ๐Ÿ“Œ 0
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.

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.

#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

15.02.2025 15:41 ๐Ÿ‘ 11 ๐Ÿ” 4 ๐Ÿ’ฌ 0 ๐Ÿ“Œ 1
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Simultaneous single-cell CRISPR, RNA, and ATAC-seq enables multiomic CRISPR screens to identify gene regulatory relationships
www.biorxiv.org/content/10.1...

13.02.2025 06:32 ๐Ÿ‘ 0 ๐Ÿ” 0 ๐Ÿ’ฌ 0 ๐Ÿ“Œ 0
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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...

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...

07.02.2025 06:33 ๐Ÿ‘ 1 ๐Ÿ” 0 ๐Ÿ’ฌ 0 ๐Ÿ“Œ 0
Graphical abstract of BioChatter

Graphical abstract of BioChatter

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...

05.02.2025 09:15 ๐Ÿ‘ 78 ๐Ÿ” 37 ๐Ÿ’ฌ 2 ๐Ÿ“Œ 2
Controversies & Challenges in Dimensional reduction and Vizualization in Single Cell Experiments
Controversies & Challenges in Dimensional reduction and Vizualization in Single Cell Experiments YouTube video by PANORAMICS - A Vision

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

04.02.2025 02:43 ๐Ÿ‘ 4 ๐Ÿ” 2 ๐Ÿ’ฌ 1 ๐Ÿ“Œ 0

Truly speaking meeting Nobel Laureate Paul Nurse back in 2001 over a lecture inspired me to learn more about DNA and Genetics and Genomics...

31.01.2025 12:49 ๐Ÿ‘ 2 ๐Ÿ” 0 ๐Ÿ’ฌ 0 ๐Ÿ“Œ 0