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Showing 1–6 of 6 results
Advanced filters: Author: Gregory Tiao Clear advanced filters

  • Here the authors provide an explanation for 95% of examined predicted loss of function variants found in disease-associated haploinsufficient genes in the Genome Aggregation Database (gnomAD), underscoring the power of the presented analysis to minimize false assignments of disease risk.

    • Sanna Gudmundsson
    • Moriel Singer-Berk
    • Anne O’Donnell-Luria
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-14

  • A strategy for inferring phase for rare variant pairs is applied to exome sequencing data for 125,748 individuals from the Genome Aggregation Database (gnomAD). This resource will aid interpretation of rare co-occurring variants in the context of recessive disease.

    • Michael H. Guo
    • Laurent C. Francioli
    • Kaitlin E. Samocha
    Research
    Nature Genetics
    Volume: 56, P: 152-161

  • A genomic constraint map for the human genome constructed using data from 76,156 human genomes from the Genome Aggregation Database shows that non-coding constrained regions are enriched for regulatory elements and variants associated with complex diseases and traits.

    • Siwei Chen
    • Laurent C. Francioli
    • Konrad J. Karczewski
    Research
    Nature
    Volume: 625, P: 92-100

  • Hepatoblastoma is the most common primary liver cancer in children. In this Primer, Pio and colleagues discuss the current knowledge and research on this malignancy, summarizing its epidemiology, mechanisms, diagnosis and management as well as quality of life and future directions.

    • Luca Pio
    • Allison F. O’Neill
    • Sophie Branchereau
    Reviews
    Nature Reviews Disease Primers
    Volume: 11, P: 1-18