124 research outputs found

    The genetic architecture of type 2 diabetes

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    The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common variants associated with type 2 diabetes, but in aggregate, these explain only a fraction of heritability. To test the hypothesis that lower-frequency variants explain much of the remainder, the GoT2D and T2D-GENES consortia performed whole genome sequencing in 2,657 Europeans with and without diabetes, and exome sequencing in a total of 12,940 subjects from five ancestral groups. To increase statistical power, we expanded sample size via genotyping and imputation in a further 111,548 subjects. Variants associated with type 2 diabetes after sequencing were overwhelmingly common and most fell within regions previously identified by genome-wide association studies. Comprehensive enumeration of sequence variation is necessary to identify functional alleles that provide important clues to disease pathophysiology, but large-scale sequencing does not support a major role for lower-frequency variants in predisposition to type 2 diabetes

    Charged-particle multiplicity and transverse energy measured in 32S central interactions at 200 GeV per nucleon

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    Interactions induced by 200 GeV per nucleon 32S ions on heavy targets were selected by the HELIOS calorimeters and studied in nuclear emulsions. Global observables, such as charged particle multiplicity and transverse energy, were determined event-by-event. Multiplicity and transverse energy were measured as a function of the pseudorapidity over the large acceptance of the present experiment (0.6≤η≤5.5). A comparison of the experimental data with those provided by the event generators FRITIOF and VENUS shows remarkable differences both in the target spectator region and in the participant region. An attempt is made to interpret these discrepancies in terms of plausible mechanisms, like baryon-pair production or rescatterin
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