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Browsing Tag

human genetics

48 posts
SScience
Benchmarking deep learning methods for biologically conserved single-cell integration | Genome Biology
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Benchmarking deep learning methods for biologically conserved single-cell integration | Genome Biology

  • November 20, 2025
A unified benchmarking framework for single-cell integration To systematically evaluate various loss functions, we established a unified benchmarking…
HHealth
Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes | Orphanet Journal of Rare Diseases
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Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes | Orphanet Journal of Rare Diseases

  • November 19, 2025
Seven patients (6 males and 1 female) presented with ten episodes of acute encephalopathy, and cerebral edema was…
HHealth
Clinical burden and healthcare resource utilization associated with achondroplasia: a real-world observational, retrospective cohort study | Orphanet Journal of Rare Diseases
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Clinical burden and healthcare resource utilization associated with achondroplasia: a real-world observational, retrospective cohort study | Orphanet Journal of Rare Diseases

  • November 5, 2025
Patient characteristics Overall, 626 people living with achondroplasia were matched with 3,130 people in the control cohort (Fig. 1).…
HHealth
GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications | Orphanet Journal of Rare Diseases
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GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications | Orphanet Journal of Rare Diseases

  • October 27, 2025
We identified 98 individuals with pathogenic or likely pathogenic GRIN2B variants from 23 publications [11, 16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37]. Additionally, we…
SScience
ParaRef: a decontaminated reference database for parasite detection in ancient and modern metagenomic datasets | Genome Biology
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ParaRef: a decontaminated reference database for parasite detection in ancient and modern metagenomic datasets | Genome Biology

  • October 23, 2025
Blake DP, Betson M. One health: parasites and beyond. Parasitology. 2017;144:1–6. PubMed  Google Scholar  Coulter JBS. Global importance…
GGenetics
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

  • October 23, 2025
Institute of Medical Genetics, University of Zurich, Zurich, Switzerland Reza Asadollahi, Paranchai Boonsawat, Dennis Kraemer & Anita Rauch Faculty of Engineering and…
SScience
iNOME-seq: in vivo simultaneous genome-wide mapping of chromatin accessibility, nucleosome positioning, DNA-binding protein sites, and DNA methylation in Arabidopsis | Genome Biology
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iNOME-seq: in vivo simultaneous genome-wide mapping of chromatin accessibility, nucleosome positioning, DNA-binding protein sites, and DNA methylation in Arabidopsis | Genome Biology

  • October 22, 2025
Plant lines and growth conditions The plant lines used in this study were derived from A. thaliana wild-type…
GGenetics
Modeling heterogeneity in single-cell perturbation states enhances detection of response eQTLs
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Modeling heterogeneity in single-cell perturbation states enhances detection of response eQTLs

  • October 21, 2025
Cohorts We used published data (GEO accession no. GSE162632) to study the effect of 12 h of ex vivo…
GGenetics
Genetics Sequencing - Precision Medicine - Abstract Illustration as EPS 10 File
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AI Human Genetics Platform Mystra Debuts for Drug Discovery, Validation

  • October 20, 2025
Officially unveiled at the American Society of Human Genetics (ASHG) 2025 meeting held in Boston, Genomics has launched…
GGenetics
Twenty years of genome-wide association studies: Health translation challenges and AI opportunities
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Twenty years of genome-wide association studies: Health translation challenges and AI opportunities

  • October 20, 2025
Southam L, Zeggini E. Twenty years of genome-wide association studies. Nature. 2025;641:47–9. Article  PubMed  CAS  Google Scholar  Klein…
GGenetics
Redefining cellular reprogramming with advanced genomic technologies
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Redefining cellular reprogramming with advanced genomic technologies

  • October 18, 2025
Briggs, R. & King, T. J. Transplantation of living nuclei from blastula cells into enucleated Frogs’ eggs. Proc.…
GGenetics
Characterization of induced cohesin loop extrusion trajectories in living cells
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Characterization of induced cohesin loop extrusion trajectories in living cells

  • October 18, 2025
Experiments performed in this study did not require ethics board approval. Cell culture HAP1 cells were cultured in…
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