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👉 Visit us on the trade show floor or book a meeting with us: hubs.ly/Q046BKDj0

#ACMG #ACMG26 #ACMGMtg26 #GenomicResearch #EGM

🚀 Launch Alert: Industry-Level AI & ML with Bioinformatics Program

#Internships #Bioinformatics #BioinformaticsInternship #InternshipOpportunities #ScienceCareers #DataScience #GenomicResearch #BiotechIntern #TechInternship #CareerGrowth #ResearchInternship #LifeSciences #STEMCareers #Biology

🧬 Cracking the genetic code! Chen et al. unveil PGS-hub: a game-changing platform for precision risk prediction across diverse populations. Genomics just got smarter! 🔬 #GenomicResearch #PrecisionMedicine #GeneticInnovation https://emmecola.github.io/genomics-daily

🐰🧬 Pika genome decoded! Tiny mountain dwellers reveal epic survival story through genetic blueprint. Conservation science just got cooler! 🏔️ #GenomicResearch #WildlifeConservation #Biodiversity https://emmecola.github.io/genomics-daily

Happy Holidays

Wishing you a joyful holiday season and a prosperous New Year from all of us at Nabsys! 🎉❄️

#HappyHolidays #Genomics #GenomicResearch

🦠 T7 phage meets synthetic cell: Breaking viral infection down to molecular dance moves! Levrier et al. rewrite the rulebook on understanding viral interactions 🧬 #SyntheticBiology #GenomicResearch https://emmecola.github.io/genomics-daily

🧬 DeepSomatic: AI-powered cancer genomics breakthrough! 🔬 New deep learning method revolutionizes somatic variant detection across sequencing platforms. Precision meets innovation! 🚀 #GenomicResearch #AIinMedicine #CancerGenomics https://emmecola.github.io/genomics-daily

🧬 Diversity wins! Pan-UK Biobank study reveals 14,676 new genetic insights by embracing global ancestry. Breaking genomic barriers, one trait at a time! 🌍 #GenomicResearch #PersonalizedMedicine https://emmecola.github.io/genomics-daily

Unlock powerful new research clues! We’ve added a 36th study and major updates to two more. Access them here: Kids First Data Portal https://monkeylink.co/9ae7c2
#GenomicResearch #DataDrivenDiscovery #KidsFirst

🚀 Have you tried #AlphaGenome yet? We’d love to hear your first impressions!

👉 Share your thoughts with us, either via DM or at genomicspreprintclub [at] gmail.com

#Genomics #Preprints #Bioinformatics #GenomicResearch #OpenScience

Cytoplasmic dynamics are overlooked in single nuclei RNA-seq but can be rescued by CytoRescue, a generative AI model to recover cytoplasm enriched gene
Deng, W., Zhao, Z.
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#CytoplasmicDynamics #GenomicResearch #AIInBiology

Constructing and Using Cell Type Populations of the Human Reference Atlas
Ardlie, K. G., Boerner, K. et al.
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#HumanCellAtlas #CellTypePopulation #GenomicResearch

🧬 Bacterial resistance just got decoded! CRISPR reveals how plasmids survive & spread antibiotic genes. Game-changing insights for fighting superbugs 🦠 #GenomicResearch #Microbiology #AntibioticResistance https://emmecola.github.io/genomics-daily

💡 While current inbreeding levels appear too low to impact reproduction, higher inbreeding in smaller or artificially bred populations could have more serious consequences.

 #animalgenetics #reproductiveefficiency #horsereproduction #genomicresearch   #geneticdiversity

How genomic research and medicine can advance African public health Prof Lamech M. Mwapagha Africa faces a heavy disease burden of both communicable and non-communicable diseases. Although the continent has generally succeeded over the last 20 years in decreasing the levels of a number of communicable diseases (e.g. cholera and polio), there are some (e.g. malaria and HIV/AIDS) whose prevalence remains quite high. This disease burden has been aggravated with the emergence of drug-resistant strains of various pathogens. Non-communicable diseases such as cardiovascular diseases (e.g. heart attack and stroke), cancer, diabetes and chronic respiratory diseases are also on the rise in Africa, with the number of deaths from these projected to increase over the next decade. The high disease burden in Africa can be significantly reduced through a proactive approach, including a combination of public health strategies to help identify genetic risk factors for diseases, and to tackle the spread of emerging infections and drug resistance. Opportunities There is an increasing body of research which suggests that a better understanding of the genomics of pathogens is likely to play a crucial role in the prevention and treatment of infectious diseases. Knowledge of particular gene expression patterns in pathogens has provided novel targets for drug therapy.  Similarly, genomic analysis has provided important prognostic indicators for breast cancer patients and helped identify the drugs to which such individuals could respond best. This has opened the door to the new era of personalised medicine that aims to tailor therapy according to each person’s genetic makeup and achieve the best outcomes for individual patients, rather than treating all persons with a ‘one size fits all’ approach. A good example was the utilisation of genome sequencing that pointed to a new treatment regimen for Nicholas Volker, who suffered from a gastrointestinal disorder that was cured with a bone marrow transplant. To date, the US Food and Drug Administration has approved 45 human genetic tests, and more than 100 nucleic acid-based tests for microbial pathogens. Although most of this research is being carried out in the developed world, scientists on the African continent are continuously attempting large-scale genome research studies focusing on specific diseases. The international HapMap project and other previous studies have shown that Africans have the greatest amount of genetic variation. Thus, understanding the genetic basis of both communicable and non-communicable diseases in Africans may provide useful insights into devising effective strategies to combat these diseases that have had a large impact on African populations. Challenges Africa still lags behind the rest of the world in the field of genomic research. This is largely attributed to the following challenges:  * Cost of genomic research remains prohibitive for African research centres, due to lack of government funding and support; * A dearth of African scientists with genomic research and computational expertise; * Lack of biomedical research infrastructure; * Lack of collaborative research among African scientists; * A climate of fear about genomic information among the public and health professionals; * Lack of proper engagement with national and regional agencies in the uptake of genomic research; * No proper policies and clear guidelines to inform medical and public health professionals about the level of confidence and the utility of genomic information. Recommendations  African Union member states set a target of 1% of GDP to be invested in research and development, but this has not been realised. So far, only South Africa, Kenya and Senegal are close to this target, at around 0.8% in all three countries. Given the huge potential of genomic research in addressing public health problems, it is crucial that such research is given higher priority in Africa.  Such research should be supported in the context of establishing infrastructure for genomic studies, capacity building and enhancing research collaborations with credible international partners. African genomic scientists should also engage in collaborative research and networks that would enable the exchange of new ideas and knowledge transfer. Such collaborations could indirectly influence policymakers to support investment in genomic research. Already there are programmes that are supporting such initiatives, but there is scope for considerable expansion. Overall, policymakers need to be involved from the outset in all discussions involving genomics research. By engaging community stakeholders, academics and public health professionals in the development of research questions and setting-up of legal regulatory frameworks, the gap between genomics and public health needs can be bridged. This would go a long way towards ensuring the translation of genomic research findings into public health benefits. *Prof Lamech M. Mwapagha is an associate professor of medical biochemistry at the Namibia University of Science and Technology (Nust), specialising in cancer genomics and antimicrobial resistance. He holds a PhD in medical biochemistry from the University of Cape Town and completed postdoctoral training in Cancer Genomics at the International Centre for Genetic Engineering and Biotechnology (ICGEB). The opinions expressed in this piece are his own, and not the views of his employer.

#GenomicResearch #PublicHealth #AfricanHealth #DiseasePrevention #HealthInnovation

Genomic Characterization of a Locally Transmitted Leishmania mexicana Isolate from Texas
Clark, E. H., Gunter, S. M. et al.
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#LeishmaniaMexicana #TexasHealth #GenomicResearch

Genomic and molecular associations with preoperative immune checkpoint inhibition in patients with stage III clear cell renal cell carcinoma
Akilesh, S. H., Amling, C. L. et al.
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#GenomicResearch #Immunotherapy #KidneyCancer

Demographic history inferred from an inversion-rich spruce bark beetle genome
Duduman, M. L., Morales-Garcia, J. et al.
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#GenomicResearch #BarkBeetleStudy #EvolutionaryBiology

Discover how gene editing is revolutionizing treatment for rare metabolic disorders. Join us live with Dr. Rebecca Ahrens-Nicklas on July 30!

Discover how gene editing is revolutionizing treatment for rare metabolic disorders. Join us live with Dr. Rebecca Ahrens-Nicklas on July 30! spkl.io/63322AEldq #GenomicResearch #Webinar

Development and Validation of a Stakeholder-Driven, Self-Contained Electronic Informed Consent Platform for Trio-Based Genomic Research Studies - PubMed Although opportunities exist to optimize iConsent, we show that such an approach is feasible, can satisfy multiple stakeholder requirements, and can realize high participant <i>satisfaction</i> and <i...

#Newpub in AJOB Empir Bioeth. by Drs. Oleszek, Pierce, Fleming & team on Development and Validation of a Stakeholder-Driven, Self-Contained Electronic #InformedConsent Platform for Trio-Based #GenomicResearch Studies. pubmed.ncbi.nlm.nih.gov/40549577/

Roslin Reels - The Roslin Institute's Dr Pam Wiener talks about her team's work on studying how animals adapt to the environment.

For more information on our research, visit our website: lnkd.in/gQHSfGAf

#GenomicResearch #LivestockResearch #AnimalHealth #ClimateChange #AnimalEvolution

While #GenerativeAI helps make #GenomicResearch more productive and accessible, Academic Associate Maelenn Corfmat explores two key concerns in her HaploTalks presentation at the @mcgill.ca Victor Phillip Dahdaleh Institute of Genomic Medicine: #Privacy and #HumanAgency 🧬🤖💬

🐶🧬 Canine cancer genetics breakthrough! Unraveling 15 risk loci in Belgian dogs could transform human gastric cancer research. Nature's own genetic roadmap revealed! 🔬 #GenomicResearch #CancerScience https://emmecola.github.io/genomics-daily

The future of neurogenetics in Africa looks promising, with a call for more investment, inclusivity, and equitable research partnerships to ensure African populations benefit from genomic medicine 👏🏽💪🏽

#Neurogenetics #Africa #GenomicResearch #H3Africa #GlobalHealth 🌿🔬

🧬 FOXP4 gene cracks the long COVID mystery! Genetic variations might explain why some folks battle persistent symptoms. Lung physiology gets a spotlight in this groundbreaking study. 🦠 #LongCOVID #GenomicResearch #HealthInnovation https://emmecola.github.io/genomics-daily

🦠 Mpox virus decoded! Tracing viral evolution across Nigeria-Cameroon border reveals hidden transmission secrets. Zoonotic mysteries unraveled! 🧬 #GenomicResearch #ViralEvolution #PublicHealth https://emmecola.github.io/genomics-daily

📣 Report out now! 𝐍𝐞𝐱𝐭 𝐬𝐭𝐞𝐩𝐬: 𝐍𝐚𝐯𝐢𝐠𝐚𝐭𝐢𝐧𝐠 𝐅𝐮𝐧𝐝𝐢𝐧𝐠 𝐏𝐚𝐭𝐡𝐰𝐚𝐲𝐬 𝐟𝐨𝐫 𝐆𝐞𝐧𝐨𝐦𝐢𝐜 𝐑𝐞𝐬𝐞𝐚𝐫𝐜𝐡 aims to help researchers find pathways for the translation of genomic interventions and new technologies into Australia’s health system.

Read it here 👉 tinyurl.com/3syf5jn4

#genomics #genomicresearch #fundingpathways

Featured today by @MSKLibrary: Pan-cancer multi-omic model of LINE-1 activity reveals locus heterogeneity of retrotransposition efficiency

#CancerGenomics #MultiOmics #LINE1 #Retrotransposition #GenomicResearch #PanCancerStudy #Bioinformatics #MolecularOncology

dx.doi.org/10.1038/s414...

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Shorter telomeres link to aging diseases like heart disease, but mitochondrially-targeted therapeutics (BGP-15, MitoQ, SS-31, metformin) can restore telomere elongation, supporting healthy aging and longevity.

#telomeres #genomicresearch #mitochondrialstress

Site-saturation mutagenesis of 500 human protein domains | Nature Missense variants that change the amino acid sequences of proteins cause one-third of human genetic diseases1. Tens of millions of missense variants exist in the current human population, and the vast majority of these have unknown functional consequences. Here we present a large-scale experimental analysis of human missense variants across many different proteins. Using DNA synthesis and cellular selection experiments we quantify the effect of more than 500,000 variants on the abundance of more than 500 human protein domains. This dataset reveals that 60% of pathogenic missense variants reduce protein stability. The contribution of stability to protein fitness varies across proteins and diseases and is particularly important in recessive disorders. We combine stability measurements with protein language models to annotate functional sites across proteins. Mutational effects on stability are largely conserved in homologous domains, enabling accurate stability prediction across entire p

Explored 500 domain sites in 500K human variants; crucial insights into genetic disease cause. Major step in addressing unknown missense effects! #GenomicResearch PMID:39779847, Nature 2025, @Nature https://doi.org/10.1038/s41586-024-08370-4 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪