Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseases

Απλή σελίδα τεκμηρίου
dc.contributor.authorKhoury, M. J.en
dc.contributor.authorBertram, L.en
dc.contributor.authorBoffetta, P.en
dc.contributor.authorButterworth, A. S.en
dc.contributor.authorChanock, S. J.en
dc.contributor.authorDolan, S. M.en
dc.contributor.authorFortier, I.en
dc.contributor.authorGarcia-Closas, M.en
dc.contributor.authorGwinn, M.en
dc.contributor.authorHiggins, J. P.en
dc.contributor.authorJanssens, A. C.en
dc.contributor.authorOstell, J.en
dc.contributor.authorOwen, R. P.en
dc.contributor.authorPagon, R. A.en
dc.contributor.authorRebbeck, T. R.en
dc.contributor.authorRothman, N.en
dc.contributor.authorBernstein, J. L.en
dc.contributor.authorBurton, P. R.en
dc.contributor.authorCampbell, H.en
dc.contributor.authorChockalingam, A.en
dc.contributor.authorFurberg, H.en
dc.contributor.authorLittle, J.en
dc.contributor.authorO'Brien, T. R.en
dc.contributor.authorSeminara, D.en
dc.contributor.authorVineis, P.en
dc.contributor.authorWinn, D. M.en
dc.contributor.authorYu, W.en
dc.contributor.authorIoannidis, J. P.en
dc.date.accessioned2015-11-24T19:14:49Z
dc.date.available2015-11-24T19:14:49Z
dc.identifier.issn1476-6256-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/21395
dc.rightsDefault Licence-
dc.subjectBayes Theoremen
dc.subjectBias (Epidemiology)en
dc.subjectDisease/*geneticsen
dc.subjectDisease Susceptibilityen
dc.subject*Epidemiologic Methodsen
dc.subjectGenetic Predisposition to Diseaseen
dc.subject*Genetic Variationen
dc.subjectGenome, Humanen
dc.subject*Genome-Wide Association Studyen
dc.subjectGeorgiaen
dc.subjectHumansen
dc.subjectInterdisciplinary Communicationen
dc.subject*Knowledge Basesen
dc.subjectMeta-Analysis as Topicen
dc.subjectPhenotypeen
dc.subjectPilot Projectsen
dc.subjectPractice Guidelines as Topicen
dc.subjectSchizophrenia/geneticsen
dc.titleGenome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseasesen
heal.abstractGenome-wide association studies (GWAS) have led to a rapid increase in available data on common genetic variants and phenotypes and numerous discoveries of new loci associated with susceptibility to common complex diseases. Integrating the evidence from GWAS and candidate gene studies depends on concerted efforts in data production, online publication, database development, and continuously updated data synthesis. Here the authors summarize current experience and challenges on these fronts, which were discussed at a 2008 multidisciplinary workshop sponsored by the Human Genome Epidemiology Network. Comprehensive field synopses that integrate many reported gene-disease associations have been systematically developed for several fields, including Alzheimer's disease, schizophrenia, bladder cancer, coronary heart disease, preterm birth, and DNA repair genes in various cancers. The authors summarize insights from these field synopses and discuss remaining unresolved issues -- especially in the light of evidence from GWAS, for which they summarize empirical P-value and effect-size data on 223 discovered associations for binary outcomes (142 with P < 10(-7)). They also present a vision of collaboration that builds reliable cumulative evidence for genetic associations with common complex diseases and a transparent, distributed, authoritative knowledge base on genetic variation and human health. As a next step in the evolution of Human Genome Epidemiology reviews, the authors invite investigators to submit field synopses for possible publication in the American Journal of Epidemiology.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.primary10.1093/aje/kwp119-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/19498075-
heal.identifier.secondaryhttp://aje.oxfordjournals.org/content/170/3/269.full.pdf-
heal.journalNameAm J Epidemiolen
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate2009-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

Αρχεία

Φάκελος/Πακέτο αδειών

Προβολή: 1 - 1 of 1
Μικρογραφία εικόνας
Ονομα:
license.txt
Μέγεθος:
1.74 KB
Μορφότυπο:
Item-specific license agreed upon to submission
Περιγραφή:
Κατεβάστε

Συλλογές

Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ