69 Matching Annotations
  1. Aug 2025
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    AI-driven multimodal algorithm predicts immunotherapy and targeted therapy outcomes in clear cell renal cell carcinoma
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    PARKIN protein-deficient iPSC line (FINi006-A) from an early-onset Parkinson’s disease female patient
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    sciencedirect.com/science/article/pii/S187350612500145X
  4. Jul 2025
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    Acquired dysfunction of CFTR underlies cystic fibrosis-like disease of the canine gallbladder. | American Journal of Physiology-Gastrointestinal and Liver Physiology
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    Clinical Significance of TERT Promoter Mutations in Neuroblastoma
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  7. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Genomic and epigenomic analysis of plasma cell-free DNA identifies stemness features associated with worse survival in lethal prostate cancer
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    Molecular and genetic evidence for the role of AMBRA1 in suppressing S-phase entry and tumorigenesis - ScienceDirect-html.html
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    Identifying candidate genetic variants for egg number by analyzing over 1,000 fully sequenced layers
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  10. Jun 2025
  11. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Single-Cell Transcriptomic Landscape Deciphers Intratumoral Heterogeneity and Subtypes of Acral and Mucosal Melanomas
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  12. May 2025
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    Convergent Genetic Adaptation in Human Tumors Developed Under Systemic Hypoxia and in Populations Living at High Altitudes
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  14. Apr 2025
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    Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States
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  16. Mar 2025
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    The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population
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  18. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    23ME-01473, an Fc Effector–Enhanced Anti-ULBP6/2/5 Antibody, Restores NK Cell–Mediated Antitumor Immunity through NKG2D and FcγRIIIa Activation
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  19. Feb 2025
  20. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia
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  21. aacrjournals.org aacrjournals.org
    The innate immune landscape of dMMR/MSI cancers predicts outcome of nivolumab treatment: results from the Drug Rediscovery Protocol
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    aacrjournals.org/clincancerres/article/30/19/4339/748545/The-Innate-Immune-Landscape-of-dMMR-MSI-Cancers
  22. Dec 2024
  23. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Pan-Cancer Analysis of Homologous Recombination Deficiency in Cell Lines
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    Biliverdinuria Caused by Exonic BLVRA Deletions in Two Dogs with Green Urine
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  25. Nov 2024
  26. 52.53.155.43 52.53.155.43
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  27. Aug 2024
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    Genetic association with autoimmune diseases identifies molecular mechanisms of coronary artery disease
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    Drought-induced molecular changes in crown of various barley phytohormone mutants
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  30. academic.oup.com academic.oup.com
    Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups
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  31. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Single-mitochondrion sequencing uncovers distinct mutational patterns and heteroplasmy landscape in mouse astrocytes and neurons
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  32. Jul 2024
  33. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The Pgb1 locus controls glycogen aggregation in astrocytes of the aged hippocampus without impacting cognitive function
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  34. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Single-Mitochondrion Sequencing Uncovers Distinct Mutational Patterns and Heteroplasmy Landscape in Mouse Astrocytes and Neurons
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    Drought-induced molecular changes in crown of various barley phytohormone mutants
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  36. May 2024
  37. www.sciencedirect.com www.sciencedirect.com
    Genome sequence analyses identify novel risk loci for multiple system atrophy
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  38. Apr 2024
  39. academic.oup.com academic.oup.com
    Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups
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  40. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Sensitive MRD detection from lymphatic fluid after surgery in HPV-associated oropharyngeal cancer
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  41. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Novel CARMIL2 Immunodeficiency Identified in a Subset of Cavalier King Charles Spaniels with Pneumocystis and Bordetella Pneumonia
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  42. Feb 2024
  43. 52.53.155.43 52.53.155.43
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    Sequence Analysis of Six Candidate Genes in Miniature Schnauzers with Primary Hypertriglyceridemia
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  45. Nov 2023
  46. dx.doi.org dx.doi.org
    Population-specific Mutation Patterns in Breast Tumors from African American, European American, and Kenyan Patients
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    dx.doi.org/10.1158/2767-9764.CRC-23-0165
  47. Oct 2023
  48. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Neoantigen targetability in progressive advanced melanoma
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  49. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Colorectal Cancer Organoid–Stroma Biobank Allows Subtype-Specific Assessment of Individualized Therapy Responses
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  50. 52.53.155.43 52.53.155.43
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  51. Sep 2023
  52. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identifying mechanisms of resistance by circulating tumour DNA in EVOLVE, a Phase II Trial of Cediranib Plus Olaparib for Ovarian Cancer at time of PARP Inhibitor Progression
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  53. Aug 2023
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  55. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    MHC Class II is Induced by IFNγ and Follows Three Distinct Patterns of Expression in Colorectal Cancer Organoids
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  56. Jul 2023
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  58. Apr 2023
  59. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Toxicity and therapy outcome associations in LIG3, SLCO1B3, ABCB1, OPRM1, and GSTP1 in high-grade serous ovarian cancer
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  60. Mar 2023
  61. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Predicting Cancer Risk from Germline Whole-exome Sequencing Data Using a Novel Context-based Variant Aggregation Approach
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  62. Aug 2022
  63. www.sciencedirect.com www.sciencedirect.com
    Protocol to identify host-viral protein interactions between coagulation-related proteins and their genetic variants with SARS-CoV-2 proteins
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  64. Jun 2022
  65. link.springer.com link.springer.com
    Investigating the characteristics of genes and variants associated with self-reported hearing difficulty in older adults in the UK Biobank
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    link.springer.com/article/10.1186/s12915-022-01349-5
  66. aacrjournals.org aacrjournals.org
    Quantification of neoantigen-mediated immunoediting in cancer evolution
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    aacrjournals.org/cancerres/article/82/12/2226/699353/Quantification-of-Neoantigen-Mediated
  67. europepmc.org europepmc.org
    A Role for Gene-Environment Interactions in Autism Spectrum Disorder Is Supported by Variants in Genes Regulating the Effects of Exposure to Xenobiotics
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    A Role for Gene-Environment Interactions in Autism Spectrum Disorder Is Supported by Variants in Genes Regulating the Effects of Exposure to Xenobiotics
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  69. Sep 2021
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    Integrated protocol for exitron and exitron-derived neoantigen identification using human RNA-seq data with ScanExitron and ScanNeo
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  71. Aug 2021
  72. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Gigwa v2—Extended and improved genotype investigator
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  74. Apr 2021
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    Integrated Omics of Metastatic Colorectal Cancer
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    A pan-cancer transcriptome analysis of exitron splicing identifies novel cancer driver genes and neoepitopes
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  77. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans
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    ncbi.nlm.nih.gov/pmc/articles/PMC8009663/
  78. Mar 2021
  79. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples
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  80. Feb 2021
  81. www.cell.com www.cell.com
    Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus
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  82. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Population-scale proteome variation in human induced pluripotent stem cells
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  83. Oct 2020
  84. www.cell.com www.cell.com
    Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus
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  85. Sep 2020
  86. www.sciencedirect.com www.sciencedirect.com
    C/EBPα and GATA-2 Mutations Induce Bilineage Acute Erythroid Leukemia through Transformation of a Neomorphic Neutrophil-Erythroid Progenitor
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    A Preliminary Study to Investigate the Genetic Background of Longevity Based on Whole-Genome Sequence Data of Two Methuselah Dogs
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    Population-scale proteome variation in human induced pluripotent stem cells
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  89. Jan 2020
  90. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Gene-centric functional dissection of human genetic variation uncovers regulators of hematopoiesis
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    Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks
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  93. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Differential effects on neurodevelopment of FTO variants in obesity and bipolar disorder suggested by in silico prediction of functional impact: An analysis in Mexican population
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  94. Nov 2018
  95. www.sciencedirect.com www.sciencedirect.com
    Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly
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  96. www.cell.com www.cell.com
    The Immune Landscape of Cancer
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    cell.com/immunity/references/S1074-7613(18)30121-3
  97. Nov 2017
  98. elifesciences.org elifesciences.org
    Genome-wide identification of lineage and locus specific variation associated with pneumococcal carriage duration
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    Mutation of the Human Circadian Clock Gene CRY1 in Familial Delayed Sleep Phase Disorder
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    cell.com/action/showMethods