About: An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Genetic matching potentially provides a means to alleviate the effects of incomplete Mendelian randomization in population-based gene-disease association studies. We therefore evaluated the genetic-matched pair study design on the basis of genome-wide SNP data (309 790 markers; Affymetrix GeneChip Human Mapping 500K Array) from 2457 individuals, sampled at 23 different recruitment sites across Europe. Using pair-wise identity-by-state (IBS) as a matching criterion, we tried to derive a subset of markers that would allow identification of the best overall matching (BOM) partner for a given individual, based on the IBS status for the subset alone. However, our results suggest that, by following this approach, the prediction accuracy is only notably improved by the first 20 markers selected, and increases proportionally to the marker number thereafter. Furthermore, in a considerable proportion of cases (76.0%), the BOM of a given individual, based on the complete marker set, came from a different recruit Genetic matching potentially provides a means to alleviate the effects of incomplete Mendelian randomization in population-based gene-disease association studies. We therefore evaluated the genetic-matched pair study design on the basis of genome-wide SNP data (309 790 markers; Affymetrix GeneChip Human Mapping 500K Array) from 2457 individuals, sampled at 23 different recruitment sites across Europe. Using pair-wise identity-by-state (IBS) as a matching criterion, we tried to derive a subset of markers that would allow identification of the best overall matching (BOM) partner for a given individual, based on the IBS status for the subset alone. However, our results suggest that, by following this approach, the prediction accuracy is only notably improved by the first 20 markers selected, and increases proportionally to the marker number thereafter. Furthermore, in a considerable proportion of cases (76.0%), the BOM of a given individual, based on the complete marker set, came from a different recruit (en)
Title	An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population (en)
skos:prefLabel	An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population (en)
skos:notation	RIV/00216208:11130/09:5338!RIV10-MZ0-11130___
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(NR9448), Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	7
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Balaščaková, Miroslava Macek, Milan
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 2. lékařská fakulta
http://linked.open...dnocenehoVysledku	302720
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/09:5338
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	population structure; matching; association; ancestry; microarray; disease association; genotype data (en)
http://linked.open.../riv/klicoveSlovo	ancestry disease association population structure association matching genotype data microarray
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[DBA477D2639E]
http://linked.open...i/riv/nazevZdroje	European Journal of Human Genetics
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	34 (xsd:int)
http://linked.open...vavai/riv/projekt	Polymorphisms in FSH- and androgen receptor genes and in the CFTR gene in the pathogenesis of severe reproductive disorders and in pharmacogenetic prevention of ovarian hyperstimulation syndrome
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	17
http://linked.open...iv/tvurceVysledku	Macek, Milan Balaščaková, Miroslava Wichmann, HE Schreiber, S. Nurnberg, P. Comas, D. Kayser, M. Kouvatsi, A. Lao, O. Gieger, C. Hofman, A. Lu, TT Becker, C. Bertranpetit, J. Bindoff, LA Caliebe, A. Freitag-Wolf, S. Gether, U. Holmlund, G. Junge, O. Krawczak, M. Mollet, I. Nelson, M. R. Nielsen, F. Nothnagel, M. Palo, J. Parson, W. Ploski, R. Rivadeneira, F. Ruether, A. Sajantila, A. Tagliabracci, A. Uitterlinden, AG Werge, T.
http://linked.open...ain/vavai/riv/wos	000267141600017
http://linked.open...n/vavai/riv/zamer	Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje
issn	1018-4813
number of pages	9 (xsd:int)
http://localhost/t...ganizacniJednotka	11130
is http://linked.open...avai/riv/vysledek of	An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population

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