38 Matching Annotations
  1. May 2024
  2. www.sciencedirect.com www.sciencedirect.com
    Protocol for genome-wide association study of human blood metabolites
    1
    1. scibot 07 May 2024
      RRID:SCR_006828

      DOI: 10.1016/j.xpro.2024.103052

      Resource: 1000 Genomes: A Deep Catalog of Human Genetic Variation (RRID:SCR_006828)

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    sciencedirect.com/science/article/pii/S266616672400217X
  3. Dec 2023
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations
    1
    1. scibot 01 Dec 2023
      RRID:SCR_0068

      DOI: 10.1101/2023.11.06.23298176

      Resource: 1000 Genomes: A Deep Catalog of Human Genetic Variation (RRID:SCR_006828)

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    ncbi.nlm.nih.gov/pmc/articles/PMC10659467/
  5. Nov 2023
  6. www.sciencedirect.com www.sciencedirect.com
    Tissue-specific and tissue-agnostic effects of genome sequence variation modulating blood pressure
    1
    1. scibot 03 Nov 2023
      RRID:SCR_006828

      DOI: 10.1016/j.celrep.2023.113351

      Resource: 1000 Genomes: A Deep Catalog of Human Genetic Variation (RRID:SCR_006828)

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    sciencedirect.com/science/article/pii/S2211124723013633
  7. Oct 2023
  8. www.sciencedirect.com www.sciencedirect.com
    Tumor sequencing of African ancestry reveals differences in clinically relevant alterations across common cancers
    1
    1. scibot 28 Oct 2023
      RRID:SCR_006828

      DOI: 10.1016/j.ccell.2023.10.003

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    sciencedirect.com/science/article/pii/S1535610823003598
  9. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    SpecHLA enables full-resolution HLA typing from sequencing data
    1
    1. scibot 06 Oct 2023
      RRID:SCR_006828

      DOI: 10.1016/j.crmeth.2023.100589

      Resource: 1000 Genomes: A Deep Catalog of Human Genetic Variation (RRID:SCR_006828)

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    ncbi.nlm.nih.gov/pmc/articles/PMC10545945/
  10. Sep 2023
  11. www.sciencedirect.com www.sciencedirect.com
    Genetic subtype-guided immunochemotherapy in diffuse large B cell lymphoma: The randomized GUIDANCE-01 trial
    1
    1. scibot 30 Sep 2023
      RRID:SCR_006828

      DOI: 10.1016/j.ccell.2023.09.004

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    sciencedirect.com/science/article/pii/S1535610823003203
  12. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Variations in Genes Encoding Human Papillomavirus Binding Receptors and Susceptibility to Cervical Precancer
    1
    1. scibot 07 Sep 2023
      RRID:SCR_006828

      DOI: 10.1158/1055-9965.EPI-23-0300

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    ncbi.nlm.nih.gov/pmc/articles/PMC10472094/
  13. Mar 2023
  14. 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
    1
    1. scibot 05 Mar 2023
      RRID:SCR_006828

      DOI: 10.1158/1055-9965.EPI-22-0123

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    ncbi.nlm.nih.gov/pmc/articles/PMC9444936/
  15. Feb 2023
  16. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Taiwan Biobank: A rich biomedical research database of the Taiwanese population
    1
    1. scibot 15 Feb 2023
      RRID:SCR_006828

      DOI: 10.1016/j.xgen.2022.100197

      Resource: 1000 Genomes: A Deep Catalog of Human Genetic Variation (RRID:SCR_006828)

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    ncbi.nlm.nih.gov/pmc/articles/PMC9903657/
  17. Dec 2022
  18. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetic influences on human blood metabolites in the Japanese population
    1
    1. scibot 30 Dec 2022
      RRID:SCR_006828

      DOI: 10.1016/j.isci.2022.105738

      Resource: 1000 Genomes: A Deep Catalog of Human Genetic Variation (RRID:SCR_006828)

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    ncbi.nlm.nih.gov/pmc/articles/PMC9792902/
  19. Sep 2022
  20. www.sciencedirect.com www.sciencedirect.com
    Ancestry-driven recalibration of tumor mutational burden and disparate clinical outcomes in response to immune checkpoint inhibitors
    1
    1. scibot 30 Sep 2022
      RRID:SCR_006828

      DOI: 10.1016/j.ccell.2022.08.022

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    sciencedirect.com/science/article/pii/S1535610822003865
  21. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of a signature of evolutionarily conserved stress-induced mutagenesis in cancer
    1
    1. scibot 22 Sep 2022
      RRID:SCR_006828

      DOI: 10.3389/fgene.2022.932763

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    ncbi.nlm.nih.gov/pmc/articles/PMC9488704/
  22. Jul 2022
  23. 52.53.155.43 52.53.155.43
    epi-22-0123-html.html
    1
    1. scibot 29 Jul 2022
      RRID:SCR_006828

      DOI: 10.1158/1055-9965.EPI-22-0123

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    52.53.155.43/3de3cb90d6c0869d24f8e6633a22fe84eaf377d7/epi-22-0123-html.html
  24. Jun 2022
  25. 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
    1
    1. scibot 28 Jun 2022
      RRID:SCR_006828

      DOI: 10.1186/s12915-022-01349-5

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    link.springer.com/article/10.1186/s12915-022-01349-5
  26. May 2022
  27. 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.
    1
    1. scibot 21 May 2022
      RRID:SCR_006828

      DOI: 10.12688/f1000research.110194.1

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    f1000research.com/articles/11-530
  28. Apr 2022
  29. eje.bioscientifica.com eje.bioscientifica.com
    Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations
    1
    1. scibot 06 Apr 2022
      RRID:SCR_006828

      DOI: 10.1530/EJE-21-0097

      Resource: 1000 Genomes: A Deep Catalog of Human Genetic Variation (RRID:SCR_006828)

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    eje.bioscientifica.com/view/journals/eje/186/2/EJE-21-0097.xml
  30. Mar 2022
  31. academic.oup.com academic.oup.com
    Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46,XY Differences of Sex Development
    1
    1. scibot 08 Mar 2022
      RRID:SCR_006828

      DOI: 10.1210/clinem/dgac064

      Resource: 1000 Genomes: A Deep Catalog of Human Genetic Variation (RRID:SCR_006828)

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    academic.oup.com/jcem/advance-article/doi/10.1210/clinem/dgac064/6521524
  32. link.springer.com link.springer.com
    GWAS in people of Middle Eastern descent reveals a locus protective of kidney function—a cross-sectional study
    1
    1. scibot 01 Mar 2022
      RRID:SCR_006828

      DOI: 10.1186/s12916-022-02267-7

      Resource: 1000 Genomes: A Deep Catalog of Human Genetic Variation (RRID:SCR_006828)

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    link.springer.com/article/10.1186/s12916-022-02267-7
  33. Feb 2022
  34. link.springer.com link.springer.com
    BDNF Levels According to Variations in the CACNA1C Gene: Sex-Based Disparity
    1
    1. scibot 08 Feb 2022
      RRID:SCR_006828

      DOI: 10.1007/s10571-022-01189-5

      Resource: 1000 Genomes: A Deep Catalog of Human Genetic Variation (RRID:SCR_006828)

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    link.springer.com/article/10.1007/s10571-022-01189-5
  35. Nov 2021
  36. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A sex-specific evolutionary interaction between ADCY9 and CETP
    1
    1. scibot 19 Nov 2021
      RRID:SCR_006828

      DOI: 10.7554/eLife.69198

      Resource: 1000 Genomes: A Deep Catalog of Human Genetic Variation (RRID:SCR_006828)

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    ncbi.nlm.nih.gov/pmc/articles/PMC8594919/
  37. Oct 2021
  38. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Human genetic analyses of organelles highlight the nucleus in age-related trait heritability
    1
    1. scibot 02 Oct 2021
      RRID:SCR_006828

      DOI: 10.7554/eLife.68610

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    ncbi.nlm.nih.gov/pmc/articles/PMC8476128/
  39. Aug 2021
  40. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Untitled document
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    1. scibot 12 Aug 2021
      RRID:SCR_006828

      DOI: 10.1523/JNEUROSCI.3155-16.2017

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    ncbi.nlm.nih.gov/pmc/articles/PMC5426185/
  41. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Gene mutations in a Han Chinese Alzheimer's disease cohort
    1
    1. scibot 11 Aug 2021
      SCR_006828

      DOI: 10.1002/brb3.1180

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    ncbi.nlm.nih.gov/pmc/articles/PMC6346667/
  42. Apr 2021
  43. 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
    1
    1. scibot 21 Apr 2021
      RRID:SCR_006828

      DOI: 10.1016/j.xcrm.2021.100250

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    sciencedirect.com/science/article/pii/S2666379121000665
  44. Mar 2021
  45. academic.oup.com academic.oup.com
    Germline EGFR variants are over-represented in adolescents and young adults (AYA) with adrenocortical carcinoma
    1
    1. scibot 03 Mar 2021
      RRID:SCR_006828

      DOI: 10.1093/hmg/ddaa268

      Resource: 1000 Genomes: A Deep Catalog of Human Genetic Variation (RRID:SCR_006828)

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    academic.oup.com/hmg/article/29/22/3679/6035190
  46. Jan 2021
  47. elifesciences.org elifesciences.org
    A variant-centric perspective on geographic patterns of human allele frequency variation
    1
    1. scibot 05 Jan 2021
      RRID:SCR_006828

      DOI: 10.7554/eLife.60107

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      Curator: @evieth

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    elifesciences.org/articles/60107
  48. Oct 2020
  49. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Effects of lifelong testosterone exposure on health and disease using Mendelian randomization
    1
    1. scibot 31 Oct 2020
      RRID:SCR_006828

      DOI: 10.7554/eLife.58914

      Resource: 1000 Genomes: A Deep Catalog of Human Genetic Variation (RRID:SCR_006828)

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    ncbi.nlm.nih.gov/pmc/articles/PMC7591257/
  50. Sep 2020
  51. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Fetal HLA-G mediated immune tolerance and interferon response in preeclampsia
    1
    1. scibot 11 Sep 2020
      RRID:SCR_006828

      DOI: 10.1016/j.ebiom.2020.102872

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    pubmed.ncbi.nlm.nih.gov/32680723/
  52. www.sciencedirect.com www.sciencedirect.com
    Comprehensive Analysis of Genetic Ancestry and Its Molecular Correlates in Cancer
    1
    1. scibot 06 Sep 2020
      RRID:SCR_006828

      DOI: 10.1016/j.ccell.2020.04.012

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      Curator: @ethanbadger

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    sciencedirect.com/science/article/pii/S1535610820302117
  53. Jan 2020
  54. elifesciences.org elifesciences.org
    Rare missense variants in the human cytosolic antibody receptor preserve antiviral function
    1
    1. scibot 13 Jan 2020
      RRID:SCR_006828

      DOI: 10.7554/eLife.48339

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    elifesciences.org/articles/48339
  55. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Gene mutations in a Han Chinese Alzheimer's disease cohort
    1
    1. scibot 13 Jan 2020
      SCR_006828

      DOI: 10.1002/brb3.1180

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    onlinelibrary.wiley.com/doi/full/10.1002/brb3.1180
  56. Apr 2019
  57. www.sciencedirect.com www.sciencedirect.com
    Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
    1
    1. scibot 05 Apr 2019
      nlx_143819

      Curator: @gabimpine

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    sciencedirect.com/science/article/pii/S0896627315008375
  58. Nov 2018
  59. www.sciencedirect.com www.sciencedirect.com
    Fast-Evolving Human-Specific Neural Enhancers Are Associated with Aging-Related Diseases
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    1. scibot 05 Nov 2018
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    sciencedirect.com/science/article/pii/S240547121830142X
  60. www.sciencedirect.com www.sciencedirect.com
    The Dynamic Landscape of Open Chromatin during Human Cortical Neurogenesis
    1
    1. scibot 05 Nov 2018
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    sciencedirect.com/science/article/pii/S0092867417314940
  61. onlinelibrary.wiley.com onlinelibrary.wiley.com
    DLGAP1 and NMDA receptor‐associated postsynaptic density protein genes influence executive function in attention deficit hyperactivity disorder
    1
    1. scibot 05 Nov 2018
      RRID:SCR_006828

      Curator: @evieth

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    onlinelibrary.wiley.com/doi/10.1002/brb3.914/full
  62. Nov 2017
  63. elifesciences.org elifesciences.org
    Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system
    1
    1. scibot 08 Nov 2017
      RRID:SCR_006828

      Curator: @kaitlinsung

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    elifesciences.org/articles/25060
  64. 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
    1
    1. scibot 08 Nov 2017
      SCR_006828

      Curator: @Zeljana_Babic

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    jneurosci.org/content/37/19/4982
  65. www.jneurosci.org www.jneurosci.org
    Untitled document
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    1. scibot 08 Nov 2017
      SCR_006828

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    jneurosci.org/content/37/19/4982.long