50 Matching Annotations
  1. Aug 2025
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ClinVar Database Evolution And Impact On Potential Pathogenic Germline Variant Reporting From Tumor Comprehensive Genomic Profiling
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    pmc.ncbi.nlm.nih.gov/articles/PMC12322967/
  3. Jul 2025
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Assessing MC1R Variants in Lentigo Maligna Melanoma Within the Utah Population
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    pmc.ncbi.nlm.nih.gov/articles/PMC12301710/
  5. May 2025
  6. www.sciencedirect.com www.sciencedirect.com
    Auditory neuropathy spectrum disorder and related auditory features in patients with hearing loss associated with the MT-TS1 m.7471dup variant
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    sciencedirect.com/science/article/pii/S1567724925000534
  7. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Clear-Cell Renal Cell Carcinoma Molecular Subtypes Differ by African and European Genetic Similarity
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    pmc.ncbi.nlm.nih.gov/articles/PMC12044083/
  8. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Diverse ERBB2/ERBB3 Activating Alterations and Coalterations Have Implications for HER2/3-Targeted Therapies across Solid Tumors
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    pmc.ncbi.nlm.nih.gov/articles/PMC12022956/
  9. Mar 2025
  10. www.sciencedirect.com www.sciencedirect.com
    Practical microenvironment classification in diffuse large B cell lymphoma using digital pathology
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    sciencedirect.com/science/article/pii/S266637912500103X
  11. Feb 2025
  12. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Evaluation of Multiple Breast Cancer Polygenic Risk Score Panels in Women of Latin American Heritage
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    pmc.ncbi.nlm.nih.gov/articles/PMC11799839/
  13. Dec 2024
  14. 52.53.155.43 52.53.155.43
    epi-24-1247-html.html
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    52.53.155.43/9df5d7f955137b1dd55188b9dc8046cb14b6fde3/epi-24-1247-html.html
  15. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Modeling Drug Responses and Evolutionary Dynamics using Patient-Derived Xenografts Reveals Precision Medicine Strategies for Triple Negative Breast Cancer
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    pmc.ncbi.nlm.nih.gov/articles/PMC7617242/
  16. Nov 2024
  17. 52.53.155.43 52.53.155.43
    ccr-24-1240-html.html
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    52.53.155.43/6cf3ca03fe9336b8c2f71d4e78c72374e9cc1cef/ccr-24-1240-html.html
  18. 52.53.155.43 52.53.155.43
    can-24-1703-html.html
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  19. Sep 2024
  20. movementdisorders.onlinelibrary.wiley.com movementdisorders.onlinelibrary.wiley.com
    NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations
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    movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.29902
  21. May 2024
  22. www.sciencedirect.com www.sciencedirect.com
    Protocol for genome-wide association study of human blood metabolites
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    sciencedirect.com/science/article/pii/S266616672400217X
  23. Dec 2023
  24. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations
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    ncbi.nlm.nih.gov/pmc/articles/PMC10659467/
  25. Nov 2023
  26. www.sciencedirect.com www.sciencedirect.com
    Tissue-specific and tissue-agnostic effects of genome sequence variation modulating blood pressure
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    sciencedirect.com/science/article/pii/S2211124723013633
  27. Oct 2023
  28. www.sciencedirect.com www.sciencedirect.com
    Tumor sequencing of African ancestry reveals differences in clinically relevant alterations across common cancers
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    sciencedirect.com/science/article/pii/S1535610823003598
  29. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    SpecHLA enables full-resolution HLA typing from sequencing data
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    ncbi.nlm.nih.gov/pmc/articles/PMC10545945/
  30. Sep 2023
  31. www.sciencedirect.com www.sciencedirect.com
    Genetic subtype-guided immunochemotherapy in diffuse large B cell lymphoma: The randomized GUIDANCE-01 trial
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    sciencedirect.com/science/article/pii/S1535610823003203
  32. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Variations in Genes Encoding Human Papillomavirus Binding Receptors and Susceptibility to Cervical Precancer
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    ncbi.nlm.nih.gov/pmc/articles/PMC10472094/
  33. Mar 2023
  34. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Association study between polymorphisms in DNA methylation-related genes and testicular germ cell tumor risk
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    ncbi.nlm.nih.gov/pmc/articles/PMC9444936/
  35. Feb 2023
  36. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Taiwan Biobank: A rich biomedical research database of the Taiwanese population
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    ncbi.nlm.nih.gov/pmc/articles/PMC9903657/
  37. Dec 2022
  38. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetic influences on human blood metabolites in the Japanese population
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    ncbi.nlm.nih.gov/pmc/articles/PMC9792902/
  39. Sep 2022
  40. www.sciencedirect.com www.sciencedirect.com
    Ancestry-driven recalibration of tumor mutational burden and disparate clinical outcomes in response to immune checkpoint inhibitors
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    sciencedirect.com/science/article/pii/S1535610822003865
  41. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of a signature of evolutionarily conserved stress-induced mutagenesis in cancer
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    ncbi.nlm.nih.gov/pmc/articles/PMC9488704/
  42. Jul 2022
  43. 52.53.155.43 52.53.155.43
    epi-22-0123-html.html
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    52.53.155.43/3de3cb90d6c0869d24f8e6633a22fe84eaf377d7/epi-22-0123-html.html
  44. Jun 2022
  45. 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
  46. May 2022
  47. f1000research.com f1000research.com
    F1000Research Article: The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms.
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    f1000research.com/articles/11-530
  48. Apr 2022
  49. eje.bioscientifica.com eje.bioscientifica.com
    Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations
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    eje.bioscientifica.com/view/journals/eje/186/2/EJE-21-0097.xml
  50. Mar 2022
  51. academic.oup.com academic.oup.com
    Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46,XY Differences of Sex Development
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    academic.oup.com/jcem/advance-article/doi/10.1210/clinem/dgac064/6521524
  52. link.springer.com link.springer.com
    GWAS in people of Middle Eastern descent reveals a locus protective of kidney function—a cross-sectional study
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    link.springer.com/article/10.1186/s12916-022-02267-7
  53. Feb 2022
  54. link.springer.com link.springer.com
    BDNF Levels According to Variations in the CACNA1C Gene: Sex-Based Disparity
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    link.springer.com/article/10.1007/s10571-022-01189-5
  55. Nov 2021
  56. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A sex-specific evolutionary interaction between ADCY9 and CETP
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    ncbi.nlm.nih.gov/pmc/articles/PMC8594919/
  57. Oct 2021
  58. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Human genetic analyses of organelles highlight the nucleus in age-related trait heritability
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    ncbi.nlm.nih.gov/pmc/articles/PMC8476128/
  59. Aug 2021
  60. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Untitled document
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    ncbi.nlm.nih.gov/pmc/articles/PMC5426185/
  61. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Gene mutations in a Han Chinese Alzheimer's disease cohort
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    ncbi.nlm.nih.gov/pmc/articles/PMC6346667/
  62. Apr 2021
  63. www.sciencedirect.com www.sciencedirect.com
    Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants
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    sciencedirect.com/science/article/pii/S2666379121000665
  64. Mar 2021
  65. academic.oup.com academic.oup.com
    Germline EGFR variants are over-represented in adolescents and young adults (AYA) with adrenocortical carcinoma
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    academic.oup.com/hmg/article/29/22/3679/6035190
  66. Jan 2021
  67. elifesciences.org elifesciences.org
    A variant-centric perspective on geographic patterns of human allele frequency variation
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    elifesciences.org/articles/60107
  68. Oct 2020
  69. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Effects of lifelong testosterone exposure on health and disease using Mendelian randomization
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    ncbi.nlm.nih.gov/pmc/articles/PMC7591257/
  70. Sep 2020
  71. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Fetal HLA-G mediated immune tolerance and interferon response in preeclampsia
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    pubmed.ncbi.nlm.nih.gov/32680723/
  72. www.sciencedirect.com www.sciencedirect.com
    Comprehensive Analysis of Genetic Ancestry and Its Molecular Correlates in Cancer
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    sciencedirect.com/science/article/pii/S1535610820302117
  73. Jan 2020
  74. elifesciences.org elifesciences.org
    Rare missense variants in the human cytosolic antibody receptor preserve antiviral function
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    elifesciences.org/articles/48339
  75. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Gene mutations in a Han Chinese Alzheimer's disease cohort
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    onlinelibrary.wiley.com/doi/full/10.1002/brb3.1180
  76. Apr 2019
  77. www.sciencedirect.com www.sciencedirect.com
    Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
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    sciencedirect.com/science/article/pii/S0896627315008375
  78. Nov 2018
  79. www.sciencedirect.com www.sciencedirect.com
    Fast-Evolving Human-Specific Neural Enhancers Are Associated with Aging-Related Diseases
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    sciencedirect.com/science/article/pii/S240547121830142X
  80. www.sciencedirect.com www.sciencedirect.com
    The Dynamic Landscape of Open Chromatin during Human Cortical Neurogenesis
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    sciencedirect.com/science/article/pii/S0092867417314940
  81. onlinelibrary.wiley.com onlinelibrary.wiley.com
    DLGAP1 and NMDA receptor‐associated postsynaptic density protein genes influence executive function in attention deficit hyperactivity disorder
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    onlinelibrary.wiley.com/doi/10.1002/brb3.914/full
  82. Nov 2017
  83. elifesciences.org elifesciences.org
    Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system
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    elifesciences.org/articles/25060
  84. www.jneurosci.org www.jneurosci.org
    New Repeat Polymorphism in the AKT1 Gene Predicts Striatal Dopamine D2/D3 Receptor Availability and Stimulant-Induced Dopamine Release in the Healthy Human Brain
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    jneurosci.org/content/37/19/4982
  85. www.jneurosci.org www.jneurosci.org
    Untitled document
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    jneurosci.org/content/37/19/4982.long