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Showing 1–8 of 8 results
Advanced filters: Author: Alex Marson Clear advanced filters

  • The APOE-ε4 allele is the strongest genetic risk factor for late-onset Alzheimer’s disease, but it is not deterministic. Here, the authors show that common genetic variation changes how APOE-ε4 influences cognition.

    • Alex G. Contreras
    • Skylar Walters
    • Timothy J. Hohman
    ResearchOpen Access
    Nature Communications
    Volume: 17, P: 1-17

  • Altering cellular responses to double-strand breaks in DNA could rebalance CRISPRediting outcomes. Here, the authors use a pooled CRISPR screen to identify inhibition of CDC7 as a strategy to improve HDR outcomes.

    • Beeke Wienert
    • David N. Nguyen
    • Jacob E. Corn
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-15

  • This study describes the integrative analysis of 111 reference human epigenomes, profiled for histone modification patterns, DNA accessibility, DNA methylation and RNA expression; the results annotate candidate regulatory elements in diverse tissues and cell types, their candidate regulators, and the set of human traits for which they show genetic variant enrichment, providing a resource for interpreting the molecular basis of human disease.

    • Anshul Kundaje
    • Wouter Meuleman
    • Manolis Kellis
    ResearchOpen Access
    Nature
    Volume: 518, P: 317-330

  • Exome sequencing has found an excess of de novo mutations in the ∼4,000 most intolerant genes in patients with two classical epileptic encephalopathies (infantile spasms and Lennox–Gastaut syndrome); among them are multiple de novo mutations in GABRB3 and ALG13.

    • Andrew S. Allen
    • Samuel F. Berkovic
    • Melodie R. Winawer
    Research
    Nature
    Volume: 501, P: 217-221