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Browsing Tag

Biomedicine

77 posts
GGenetics
Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches
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Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches

  • July 28, 2025
Kumar D. Disorders of the genome architecture: a review. Genom Med. 2008;2:69–76. https://doi.org/10.1007/s11568-009-9028-2. Article  Google Scholar  Shaw CJ,…
GGenetics
Towards improved fine-mapping of candidate causal variants
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Towards improved fine-mapping of candidate causal variants

  • July 28, 2025
Visscher, P. M. et al. 10 years of GWAS discovery: biology, function, and translation. Am. J. Hum. Genet.…
GGenetics
The impact of genetic immune disorders on infections including COVID-19, inflammatory bowel disease and cancer
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The impact of genetic immune disorders on infections including COVID-19, inflammatory bowel disease and cancer

  • July 28, 2025
Poli, M. C. et al. Human inborn errors of immunity: 2024 update on the classification from the International…
HHealth care
Peace in Colombia requires healing the scars of conflict on the mind and brain
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Peace in Colombia requires healing the scars of conflict on the mind and brain

  • July 28, 2025
A.I. is supported by grants from the multi-partner consortium to expand dementia research in Latin America (ReDLat, supported…
AArtificial intelligence
Multi-cohort machine learning identifies predictors of cognitive impairment in Parkinson’s disease
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Multi-cohort machine learning identifies predictors of cognitive impairment in Parkinson’s disease

  • July 27, 2025
Harvey, J. et al. Machine learning-based prediction of cognitive outcomes in de novo Parkinson’s disease. npj Parkinsons Dis.…
GGenetics
Weight-loss associated DNA methylation patterns: targetable biomarkers and pathway insights | BMC Research Notes
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Weight-loss associated DNA methylation patterns: targetable biomarkers and pathway insights | BMC Research Notes

  • July 22, 2025
Processed datasets Public datasets were collected and analyzed independently. We utilized DNAm arrays from the Illumina EPIC platform,…
GGenetics
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients
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Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients

  • July 21, 2025
Cohort characteristics and model risk score distribution The study cohort comprised 92,493 patients enrolled in the DT Biobank…
GGenetics
Viromics approaches for the study of viral diversity and ecology in microbiomes
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Viromics approaches for the study of viral diversity and ecology in microbiomes

  • July 21, 2025
Koonin, E. V., Kuhn, J. H., Dolja, V. V. & Krupovic, M. Megataxonomy and global ecology of the…
GGenetics
Multiplexed assays of variant effect for clinical variant interpretation
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Multiplexed assays of variant effect for clinical variant interpretation

  • July 21, 2025
Chen, E. et al. Rates and classification of variants of uncertain significance in hereditary disease genetic testing. JAMA…
GGenetics
Machine learning reveals complex genetics of fungal resistance in sorghum grain mold
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Machine learning reveals complex genetics of fungal resistance in sorghum grain mold

  • July 19, 2025
Ackerman A, Wenndt A, Boyles R (2021) The sorghum grain mold disease complex: pathogens, host responses, and the…
GGenetics
Therapeutic strategies for fragile X syndrome and implications for other gene-silencing disorders
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Therapeutic strategies for fragile X syndrome and implications for other gene-silencing disorders

  • July 17, 2025
Ng, S. B. et al. Exome sequencing identifies the cause of a Mendelian disorder. Nat. Genet. 42, 30–35…
GGenetics
How to more efficiently study complex treatment interactions | MIT News
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How to more efficiently study complex treatment interactions | MIT News

  • July 16, 2025
MIT researchers have developed a new theoretical framework for studying the mechanisms of treatment interactions. Their approach allows…
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