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Browsing Tag

Human Genetics

50 posts
GGenetics
Genetic investigation of sinopulmonary diseases in Vietnam: seeking specific causes from non-specific symptoms | Orphanet Journal of Rare Diseases
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Genetic investigation of sinopulmonary diseases in Vietnam: seeking specific causes from non-specific symptoms | Orphanet Journal of Rare Diseases

  • October 15, 2025
O’Donnell AE. Bronchiectasis – a clinical review. N Engl J Med. 2022;387(6):533–45. Article  PubMed  Google Scholar  Flume PA,…
GGenetics
Oxford Nanopore Announces PromethION Plus Flow Cell and Human Genetics Updates at ASHG 2025
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Oxford Nanopore Announces PromethION Plus Flow Cell and Human Genetics Updates at ASHG 2025

  • October 15, 2025
OXFORD, England, October 15, 2025–(BUSINESS WIRE)–At the American Society of Human Genetics (ASHG) 2025 industry session on 16th…
GGenetics
Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health
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Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health

  • October 11, 2025
Ethics Our research complies with all relevant ethical regulations. All studies included in this research were approved by…
GGenetics
Nucleotide dependency analysis of genomic language models detects functional elements
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Nucleotide dependency analysis of genomic language models detects functional elements

  • October 11, 2025
SpeciesLM training For SpeciesLM metazoa, we obtained metazoan genomes comprising 494 different species from the Ensembl 110 database36.…
GGenetics
Forensic genetics in the omics era
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Forensic genetics in the omics era

  • October 10, 2025
Jeffreys, A. J., Wilson, V. & Thein, S. L. Individual-specific ‘fingerprints’ of human DNA. Nature 316, 76–79 (1985).…
GGenetics
A novel gene expression stability metric to unveil homeostasis and regulation | Genome Biology
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A novel gene expression stability metric to unveil homeostasis and regulation | Genome Biology

  • October 10, 2025
K-proportion and gene homeostasis Z-Index identify regulatory genes As cells of the same type and in the same…
BBusiness
Structural and evolutionary features of red algal UV sex chromosomes | Genome Biology
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Structural and evolutionary features of red algal UV sex chromosomes | Genome Biology

  • October 7, 2025
To define the male and female haplotypes of the sex-determining locus in Gracilaria species, we leveraged male reference…
BBusiness
SpatPPI: a geometric deep learning model for predicting protein–protein interactions involving intrinsically disordered regions | Genome Biology
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SpatPPI: a geometric deep learning model for predicting protein–protein interactions involving intrinsically disordered regions | Genome Biology

  • October 6, 2025
Data preparation In this section, we introduce the details of the datasets used in this study, including the…
GGenetics
KidneyGenAfrica, a pan-African partnership to deliver research and training excellence in genomics of kidney disease
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KidneyGenAfrica, a pan-African partnership to deliver research and training excellence in genomics of kidney disease

  • October 4, 2025
Precision Healthcare University Research Institute, Queen Mary University of London, London, UK Segun Fatumo, Oyesola Ojewunmi, Rebecca Camenzuli, Christopher Kintu & Claudia Langenberg…
GGenetics
A genetic map of human metabolism across the allele frequency spectrum
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A genetic map of human metabolism across the allele frequency spectrum

  • October 4, 2025
Study design The UKB is a prospective cohort study from the UK that contains more than 500,000 volunteers…
GGenetics
Incorporating additive genetic effects and linkage disequilibrium information to discover gene-environment interactions using BV-LDER-GE | Genome Biology
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Incorporating additive genetic effects and linkage disequilibrium information to discover gene-environment interactions using BV-LDER-GE | Genome Biology

  • October 3, 2025
Model overview We consider the following model to incorporate both additive and interaction effects: $${Y}_{i}={\sum }_{j=1}^{M}{G}_{ji}{\beta }_{j}+{\sum }_{j=1}^{M}{S}_{ji}{\gamma…
GGenetics
Spatial architecture of development and disease
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Spatial architecture of development and disease

  • October 1, 2025
Bressan, D., Battistoni, G. & Hannon, G. J. The dawn of spatial omics. Science 381, eabq4964 (2023). Article …
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