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Browsing Tag

Human Genetics

65 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
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 10, 2025
SpeciesLM training For SpeciesLM metazoa, we obtained metazoan genomes comprising 494 different species from the Ensembl 110 database36.…
BBusiness
Spatial signatures for predicting immunotherapy outcomes using multi-omics in non-small cell lung cancer
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Spatial signatures for predicting immunotherapy outcomes using multi-omics in non-small cell lung cancer

  • October 10, 2025
Study population We studied three independent cohorts of patients with NSCLC who were treated with PD-1-based immunotherapies in…
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…
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 …
GGenetics
Limited overlap between genetic effects on disease susceptibility and disease survival
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Limited overlap between genetic effects on disease susceptibility and disease survival

  • September 30, 2025
Ethics statement This study was conducted in compliance with the relevant ethical guidelines and approved by the appropriate…
GGenetics
Advances in haplotype phasing and genotype imputation
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Advances in haplotype phasing and genotype imputation

  • September 24, 2025
Voight, B. F., Kudaravalli, S., Wen, X. & Pritchard, J. K. A map of recent positive selection in…
GGenetics
The dawn of bryophyte genomics is here
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The dawn of bryophyte genomics is here

  • September 24, 2025
Puttick, M. N. et al. Curr. Biol. 28, 733–745.e2 (2018). Article  PubMed  CAS  Google Scholar  Shaw, A. J,…
GGenetics
Fueling chromosomal gene diversification and artificial evolution with CRISPR | Genome Biology
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Fueling chromosomal gene diversification and artificial evolution with CRISPR | Genome Biology

  • September 23, 2025
Wilson DS, Keefe AD. Random mutagenesis by PCR. Curr Protoc Mol Biol. 2001;51:8–3. Google Scholar  Reetz MT, Wu…
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