Calibration of credibility of agnostic genome-wide associations

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Μικρογραφία εικόνας

Ημερομηνία

Συγγραφείς

Ioannidis, J. P.

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Εκδότης

Περίληψη

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Είδος δημοσίευσης σε συνέδριο

Είδος περιοδικού

peer-reviewed

Είδος εκπαιδευτικού υλικού

Όνομα συνεδρίου

Όνομα περιοδικού

Am J Med Genet B Neuropsychiatr Genet

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Σειρά βιβλίου

Έκδοση βιβλίου

Συμπληρωματικός/δευτερεύων τίτλος

Περιγραφή

Genome-wide testing platforms are increasingly used to promote "agnostic" approaches to the discovery of gene variants associated with the risk of many common diseases and quantitative traits. The early track record of genome-wide association (GWA) studies suggests that some proposed associations are replicated quite consistently with large-scale subsequent evidence from multiple studies, others have a more inconsistent replication record, some have failed to be replicated by independent investigators and many more early proposed associations await further replication. An important question is how to calibrate the credibility of these postulated associations. A simple Bayesian method is applied here to achieve such calibration. The variability of the estimated credibility is examined under different assumptions. Empirical examples are drawn from existing GWA studies. It is demonstrated that the credibility of different proposed associations can cover a very wide range. The credibility of specific associations usually remains relatively robust when different plausible assumptions are made (within a reasonable range) for the prior odds of an association being true, or the magnitude of the anticipated effect size for genetic associations. Heterogeneity and bias assumptions can have a more major impact on the credibility estimates and thus they need very careful consideration in each case. Credibility calibration may be used in conjunction with qualitative criteria for the appraisal of the cumulative evidence that take into consideration the amount, consistency, and protection from bias in the data.

Περιγραφή

Λέξεις-κλειδιά

Agnosia, Bayes Theorem, Calibration, Chromosome Mapping/methods/*standards, Disease/etiology, Empirical Research, Genetic Linkage/*physiology, Genetic Variation/physiology, Genetics, Population/*standards, Humans, Reproducibility of Results, Validation Studies as Topic

Θεματική κατηγορία

Παραπομπή

Σύνδεσμος

http://www.ncbi.nlm.nih.gov/pubmed/18361430
http://onlinelibrary.wiley.com/store/10.1002/ajmg.b.30721/asset/30721_ftp.pdf?v=1&t=h0jeapdj&s=0afd59ab2a30ebd08a8fa4378db46414556a85db

Γλώσσα

en

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Εξεταστική επιτροπή

Γενική Περιγραφή / Σχόλια

Ίδρυμα και Σχολή/Τμήμα του υποβάλλοντος

Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής

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