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Showing 1–7 of 7 results
Advanced filters: Author: Kimberly Skead Clear advanced filters

  • Age-related clonal hematopoiesis is associated with risk for diseases like acute myeloid leukemia (AML), yet it is unclear why some individuals do not progress despite having AML driver mutations. Here, the authors use deep learning and population genetics models to investigate how the interplay of positive and negative selection influences AML progression.

    • Kimberly Skead
    • Armande Ang Houle
    • Philip Awadalla
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-11

  • Genomic studies often lack representation from diverse populations, limiting equitable insights. Here, the authors show that the BIG Initiative captures extensive genetic diversity and reveals ancestry-linked health disparities in a community-based Mid-South cohort.

    • Silvia Buonaiuto
    • Franco Marsico
    • Vincenza Colonna
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-12

  • A dataset of coding variation, derived from exome sequencing of nearly one million individuals from a range of ancestries, provides insight into rare variants and could accelerate the discovery of disease-associated genes and advance precision medicine efforts.

    • Kathie Y. Sun
    • Xiaodong Bai
    • Suganthi Balasubramanian
    ResearchOpen Access
    Nature
    Volume: 631, P: 583-592

  • Individuals with different genotypes may respond differently to environmental variation. Here, Favé et al. find substantial impacts of different environment exposures on the transcriptome and clinical endophenotypes when controlling for genetic ancestry by analyzing data from ∼1000 individuals from a founder population in Quebec.

    • Marie-Julie Favé
    • Fabien C. Lamaze
    • Philip Awadalla
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-12

  • Anterior Uveitis is a common inflammatory eye disease that can result in vision loss. Here, the authors perform GWAS and whole-exome analyses of Anterior Uveitis to identify the underlying genetics of HLA-B*27 positive and negative forms of the disease.

    • Sahar Gelfman
    • Arden Moscati
    • Giovanni Coppola
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-13

  • Stroke is a multifactorial disease influenced by genetic and environmental factors. Here, the authors apply exome-wide association analysis to find rare coding variants associated with stroke in a Pakistani cohort, finding a significant association of a variant in NOTCH3 that is highly enriched in South Asians.

    • Juan Lorenzo Rodriguez-Flores
    • Shareef Khalid
    • Danish Saleheen
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-14