78 Matching Annotations
  1. Feb 2026
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    BICC1 interacts with PKD1 and PKD2 to drive cystogenesis in ADPKD
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    pmc.ncbi.nlm.nih.gov/articles/PMC12900513/
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    The Smarcal1-Usp37 locus modulates glycogen aggregation in astrocytes of the aged hippocampus
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    sciencedirect.com/science/article/pii/S2405471225003217
  4. Jan 2026
  5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Exploring a genetic basis for the metabolic perturbations in ME/CFS using UK biobank
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    pmc.ncbi.nlm.nih.gov/articles/PMC12796752/
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    Multi-omics identifies oxidative stress, prothrombotic pathways, and lactoperoxidase variants as key factors in COVID-19 severity
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    sciencedirect.com/science/article/pii/S2352396425005614
  7. Dec 2025
  8. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Long-term Survival and Molecular Biomarker Evaluation of a Phase II Cetuximab and Nivolumab Clinical Trial in Recurrent/Metastatic Head and Neck Cancer
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    pmc.ncbi.nlm.nih.gov/articles/PMC12667737/
  9. Nov 2025
  10. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Tumor-Informed ctDNA Assay to Predict Outcome in Recurrent and/or Metastatic Squamous Cell Carcinoma of the Head and Neck Treated with PD-1 Inhibitor
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  11. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort
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    pmc.ncbi.nlm.nih.gov/articles/PMC12580210/
  12. Oct 2025
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    CD40 agonist mitazalimab with mFOLFIRINOX in untreated metastatic pancreatic cancer: Biomarkers associated with outcomes from OPTIMIZE-1
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    sciencedirect.com/science/article/pii/S266637912500480X
  14. Sep 2025
  15. aacrjournals.org aacrjournals.org
    Human papillomavirus integration induces oncogenic host gene fusions in oropharyngeal cancers
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    aacrjournals.org/cancerdiscovery/article/15/9/1927/764362/Human-Papillomavirus-Integration-Induces-Oncogenic
  16. 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
  19. Jul 2025
  20. 52.53.155.43 52.53.155.43
    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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  22. 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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  23. 52.53.155.43 52.53.155.43
    Molecular and genetic evidence for the role of AMBRA1 in suppressing S-phase entry and tumorigenesis - ScienceDirect-html.html
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  24. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identifying candidate genetic variants for egg number by analyzing over 1,000 fully sequenced layers
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  25. Jun 2025
  26. 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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  27. May 2025
  28. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Convergent Genetic Adaptation in Human Tumors Developed Under Systemic Hypoxia and in Populations Living at High Altitudes
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  29. Apr 2025
  30. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States
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  31. Mar 2025
  32. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population
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  33. 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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  34. Feb 2025
  35. 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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  36. 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
  37. Dec 2024
  38. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Pan-Cancer Analysis of Homologous Recombination Deficiency in Cell Lines
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  39. www.mdpi.com www.mdpi.com
    Biliverdinuria Caused by Exonic BLVRA Deletions in Two Dogs with Green Urine
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  40. Nov 2024
  41. 52.53.155.43 52.53.155.43
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  42. Aug 2024
  43. www.sciencedirect.com www.sciencedirect.com
    Genetic association with autoimmune diseases identifies molecular mechanisms of coronary artery disease
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  44. www.tandfonline.com www.tandfonline.com
    Drought-induced molecular changes in crown of various barley phytohormone mutants
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    tandfonline.com/doi/abs/10.1080/15592324.2024.2371693
  45. 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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    academic.oup.com/gigascience/article/doi/10.1093/gigascience/giae014/7646332
  46. 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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    ncbi.nlm.nih.gov/pmc/articles/PMC11287894/
  47. Jul 2024
  48. 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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  49. 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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    ncbi.nlm.nih.gov/pmc/articles/PMC11195285/
  50. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Drought-induced molecular changes in crown of various barley phytohormone mutants
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  51. May 2024
  52. www.sciencedirect.com www.sciencedirect.com
    Genome sequence analyses identify novel risk loci for multiple system atrophy
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  53. Apr 2024
  54. 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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    academic.oup.com/gigascience/article/doi/10.1093/gigascience/giae014/7646332
  55. 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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    ncbi.nlm.nih.gov/pmc/articles/PMC10982646/
  56. 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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    ncbi.nlm.nih.gov/pmc/articles/PMC10970956/
  57. Feb 2024
  58. 52.53.155.43 52.53.155.43
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  59. www.mdpi.com www.mdpi.com
    Sequence Analysis of Six Candidate Genes in Miniature Schnauzers with Primary Hypertriglyceridemia
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    mdpi.com/2073-4425/15/2/193
  60. Nov 2023
  61. 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
  62. Oct 2023
  63. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Neoantigen targetability in progressive advanced melanoma
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  64. 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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  65. 52.53.155.43 52.53.155.43
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  66. Sep 2023
  67. 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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  68. Aug 2023
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  70. 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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  71. Jul 2023
  72. 52.53.155.43 52.53.155.43
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  73. Apr 2023
  74. 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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    onlinelibrary.wiley.com/doi/10.1111/bcpt.13866
  75. Mar 2023
  76. 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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    ncbi.nlm.nih.gov/pmc/articles/PMC10032232/
  77. Aug 2022
  78. 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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    sciencedirect.com/science/article/pii/S2666166722005287
  79. Jun 2022
  80. 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
  81. 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
  82. 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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    europepmc.org/article/PMC/PMC9161282
  83. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    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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  84. Sep 2021
  85. www.sciencedirect.com www.sciencedirect.com
    Integrated protocol for exitron and exitron-derived neoantigen identification using human RNA-seq data with ScanExitron and ScanNeo
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    sciencedirect.com/science/article/pii/S2666166721004949
  86. Aug 2021
  87. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Gigwa v2—Extended and improved genotype investigator
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  89. 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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    sciencedirect.com/science/article/pii/S1097276521002239
  92. 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/
  93. Mar 2021
  94. 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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  95. Feb 2021
  96. 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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    cell.com/med/fulltext/S2666-6340(20)30009-X
  97. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Population-scale proteome variation in human induced pluripotent stem cells
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    ncbi.nlm.nih.gov/pmc/articles/PMC7447446/
  98. Oct 2020
  99. 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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  100. Sep 2020
  101. 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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  102. www.frontiersin.org www.frontiersin.org
    A Preliminary Study to Investigate the Genetic Background of Longevity Based on Whole-Genome Sequence Data of Two Methuselah Dogs
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    frontiersin.org/article/10.3389/fgene.2020.00315/full
  103. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Population-scale proteome variation in human induced pluripotent stem cells
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  104. Jan 2020
  105. 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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    ncbi.nlm.nih.gov/pmc/articles/PMC6534380/
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    Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks
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  107. academic.oup.com academic.oup.com
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    academic.oup.com/gigascience/article/8/5/giz051/5488103
  108. 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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    onlinelibrary.wiley.com/doi/full/10.1002/brb3.1249
  109. Nov 2018
  110. 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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    sciencedirect.com/science/article/pii/S0092867418301557
  111. www.cell.com www.cell.com
    The Immune Landscape of Cancer
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    cell.com/immunity/references/S1074-7613(18)30121-3
  112. Nov 2017
  113. elifesciences.org elifesciences.org
    Genome-wide identification of lineage and locus specific variation associated with pneumococcal carriage duration
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    elifesciences.org/articles/26255
  114. f1000research.com f1000research.com
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    f1000research.com/articles/5-2791/v1
  115. www.cell.com www.cell.com
    Mutation of the Human Circadian Clock Gene CRY1 in Familial Delayed Sleep Phase Disorder
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    cell.com/action/showMethods