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Showing 1–3 of 3 results
Advanced filters: Author: Nicole Deflaux Clear advanced filters

  • The emergence of large-scale genomics projects has led to genetic studies across cohorts. Here, the authors conduct genome-wide association studies meta-analyzing in trusted research environments or pooling together and find similar, but not identical results.

    • Nicole Deflaux
    • Margaret Sunitha Selvaraj
    • Alexander G. Bick
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-10

  • Exome sequencing data from 60,706 people of diverse geographic ancestry is presented, providing insight into genetic variation across populations, and illuminating the relationship between DNA variants and human disease.

    • Monkol Lek
    • Konrad J. Karczewski
    • Daniel G. MacArthur
    ResearchOpen Access
    Nature
    Volume: 536, P: 285-291

  • Yuen et al. developed a cloud-based database with 5,205 whole genomes from families with autism spectrum disorder (ASD). They identified 18 new candidate ASD-risk genes and approximately 100 risk genes and copy-number loci, which account for 11% of the cases. They also found that individuals bearing mutations in ASD-risk genes had lower adaptive ability.

    • Ryan K C Yuen
    • Daniele Merico
    • Stephen W Scherer
    Research
    Nature Neuroscience
    Volume: 20, P: 602-611