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Showing 1–3 of 3 results
Advanced filters: Author: Benjamin J. Stenson Clear advanced filters

  • 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

  • Infection remains a leading cause of morbidity and mortality in neonates worldwide. Here the authors report disproportionate immune stimulatory, co-inhibitory and metabolic pathway responses that specifically mark bacterial infection and can be used to predict sepsis in neonatal patients at the first clinical signs of infection.

    • Claire L. Smith
    • Paul Dickinson
    • Peter Ghazal
    ResearchOpen Access
    Nature Communications
    Volume: 5, P: 1-15

  • Results for the final phase of the 1000 Genomes Project are presented including whole-genome sequencing, targeted exome sequencing, and genotyping on high-density SNP arrays for 2,504 individuals across 26 populations, providing a global reference data set to support biomedical genetics.

    • Adam Auton
    • Gonçalo R. Abecasis
    • Gonçalo R. Abecasis
    ResearchOpen Access
    Nature
    Volume: 526, P: 68-74