62 Matching Annotations
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    Circulating tumor DNA in body fluids for molecular characterization of cancers beyond tissue and blood
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    sciencedirect.com/science/article/pii/S2589004226032761
  3. Aug 2026
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A Novel FAM83H Truncation Mutation Disrupts Enamel Mineralization in Autosomal Dominant Hypocalcified Amelogenesis Imperfecta
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    pmc.ncbi.nlm.nih.gov/articles/PMC13472511/
  5. Jul 2026
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    Investigating the determinants of immunotherapy response in the primary tumour of clear cell renal cell carcinoma (RCC)
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    pmc.ncbi.nlm.nih.gov/articles/PMC13331001/
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    The Pan-Tumor Landscape of Gene Amplifications and Copy Number Amplification Ratio for Established and Emerging Clinical Targets
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    pmc.ncbi.nlm.nih.gov/articles/PMC13320176/
  8. Jun 2026
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    Genomic and transcriptomic analysis of high-grade endometrial carcinoma reveals biological heterogeneity and molecular classification challenges
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    aacrjournals.org/cancerrescommun/article/6/4/961/784451/Genomic-and-Transcriptomic-Analysis-of-High-Grade
  10. Apr 2026
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    Gene-culture coevolution shapes olfactory receptor gene diversity in Orang Asli populations
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  12. Mar 2026
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    Interplay between genetic ancestry, self-reported race and ethnicity, and clinical factors in pediatric acute lymphoblastic leukemia: A REDIAL Consortium Report
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    pmc.ncbi.nlm.nih.gov/articles/PMC13002320/
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    Germline predisposition to oncogenic alkylating damage in colorectal cancer
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    pmc.ncbi.nlm.nih.gov/articles/PMC12977196/
  15. Feb 2026
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    Brain age gap as biomarker linking cardiovascular diseases genetic susceptibility and causality
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    sciencedirect.com/science/article/pii/S2589004226003627
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    DNA And RNA-Based Next-Generation Sequencing For Companion Diagnostic Rearrangement Detection In Solid Tumors
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    pmc.ncbi.nlm.nih.gov/articles/PMC12923117/
  18. Jan 2026
  19. www.tandfonline.com www.tandfonline.com
    Harsh parenting and rs11621961 at the SERPINA6/1 locus: gene-environment interaction effects on hair cortisol in a Brazilian population-based longitudinal study
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    tandfonline.com/doi/abs/10.1080/10253890.2025.2611613
  20. Dec 2025
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    Immunopeptidomics combined with full-length transcriptomics uncovers diverse neoantigens
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  22. Aug 2025
  23. 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/
  24. Jul 2025
  25. 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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  26. May 2025
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    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
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    Clear-Cell Renal Cell Carcinoma Molecular Subtypes Differ by African and European Genetic Similarity
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  29. 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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  30. Mar 2025
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    Practical microenvironment classification in diffuse large B cell lymphoma using digital pathology
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  32. Feb 2025
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    Evaluation of Multiple Breast Cancer Polygenic Risk Score Panels in Women of Latin American Heritage
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  34. Dec 2024
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    Modeling Drug Responses and Evolutionary Dynamics using Patient-Derived Xenografts Reveals Precision Medicine Strategies for Triple Negative Breast Cancer
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  37. Nov 2024
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  40. Sep 2024
  41. 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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  42. May 2024
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    Protocol for genome-wide association study of human blood metabolites
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  44. Dec 2023
  45. 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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  46. Nov 2023
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    Tissue-specific and tissue-agnostic effects of genome sequence variation modulating blood pressure
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  48. Oct 2023
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    Tumor sequencing of African ancestry reveals differences in clinically relevant alterations across common cancers
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    SpecHLA enables full-resolution HLA typing from sequencing data
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  51. Sep 2023
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    Genetic subtype-guided immunochemotherapy in diffuse large B cell lymphoma: The randomized GUIDANCE-01 trial
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    Variations in Genes Encoding Human Papillomavirus Binding Receptors and Susceptibility to Cervical Precancer
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  54. Mar 2023
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    Association study between polymorphisms in DNA methylation-related genes and testicular germ cell tumor risk
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  56. Feb 2023
  57. 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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  58. Dec 2022
  59. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetic influences on human blood metabolites in the Japanese population
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  60. Sep 2022
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    Ancestry-driven recalibration of tumor mutational burden and disparate clinical outcomes in response to immune checkpoint inhibitors
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    Identification of a signature of evolutionarily conserved stress-induced mutagenesis in cancer
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  63. Jul 2022
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  65. Jun 2022
  66. 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
  67. May 2022
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    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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  69. Apr 2022
  70. eje.bioscientifica.com eje.bioscientifica.com
    Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations
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  71. Mar 2022
  72. 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
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    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
  74. Feb 2022
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    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
  76. Nov 2021
  77. 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/
  78. Oct 2021
  79. 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/
  80. Aug 2021
  81. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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    ncbi.nlm.nih.gov/pmc/articles/PMC5426185/
  82. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Gene mutations in a Han Chinese Alzheimer's disease cohort
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  83. Apr 2021
  84. 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
  85. Mar 2021
  86. 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
  87. Jan 2021
  88. elifesciences.org elifesciences.org
    A variant-centric perspective on geographic patterns of human allele frequency variation
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    elifesciences.org/articles/60107
  89. Oct 2020
  90. 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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  91. Sep 2020
  92. 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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    Comprehensive Analysis of Genetic Ancestry and Its Molecular Correlates in Cancer
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  94. Jan 2020
  95. elifesciences.org elifesciences.org
    Rare missense variants in the human cytosolic antibody receptor preserve antiviral function
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    elifesciences.org/articles/48339
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    Gene mutations in a Han Chinese Alzheimer's disease cohort
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    onlinelibrary.wiley.com/doi/full/10.1002/brb3.1180
  97. Apr 2019
  98. 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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  99. Nov 2018
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    Fast-Evolving Human-Specific Neural Enhancers Are Associated with Aging-Related Diseases
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  101. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    The Dynamic Landscape of Open Chromatin during Human Cortical Neurogenesis
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    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
  103. Nov 2017
  104. 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
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    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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