Matches in SemOpenAlex for { <https://semopenalex.org/work/W2613307380> ?p ?o ?g. }
- W2613307380 endingPage "1032" @default.
- W2613307380 startingPage "1025" @default.
- W2613307380 abstract "Recently, the Haplotype Reference Consortium (HRC) released a large imputation panel that allows more accurate imputation of genetic variants. In this study, we compared a set of directly assayed common and rare variants from an exome array to imputed genotypes, that is, 1000 genomes project (1000GP) and HRC. We showed that imputation using the HRC panel improved the concordance between assayed and imputed genotypes at common, and especially, low-frequency variants. Furthermore, we performed a genome-wide association meta-analysis of vertical cup-disc ratio, a highly heritable endophenotype of glaucoma, in four cohorts using 1000GP and HRC imputations. We compared the results of the meta-analysis using 1000GP to the meta-analysis results using HRC. Overall, we found that using HRC imputation significantly improved P values (P = 3.07 × 10−61), particularly for suggestive variants. Both meta-analyses were performed in the same sample size, yet we found eight genome-wide significant loci in the HRC-based meta-analysis versus seven genome-wide significant loci in the 1000GP-based meta-analysis. This study provides supporting evidence of the new avenues for gene discovery and fine mapping that the HRC imputation panel offers." @default.
- W2613307380 created "2017-05-19" @default.
- W2613307380 creator A5004324001 @default.
- W2613307380 creator A5008259206 @default.
- W2613307380 creator A5010641221 @default.
- W2613307380 creator A5014697122 @default.
- W2613307380 creator A5014961175 @default.
- W2613307380 creator A5016454136 @default.
- W2613307380 creator A5017009749 @default.
- W2613307380 creator A5029948119 @default.
- W2613307380 creator A5031530236 @default.
- W2613307380 creator A5031790953 @default.
- W2613307380 creator A5035009040 @default.
- W2613307380 creator A5041855356 @default.
- W2613307380 creator A5045241030 @default.
- W2613307380 creator A5048437397 @default.
- W2613307380 creator A5053735474 @default.
- W2613307380 creator A5054487026 @default.
- W2613307380 creator A5057695261 @default.
- W2613307380 creator A5060284510 @default.
- W2613307380 creator A5060343222 @default.
- W2613307380 creator A5062661345 @default.
- W2613307380 date "2017-06-09" @default.
- W2613307380 modified "2023-10-08" @default.
- W2613307380 title "Haplotype reference consortium panel: Practical implications of imputations with large reference panels" @default.
- W2613307380 cites W1579534339 @default.
- W2613307380 cites W1907868928 @default.
- W2613307380 cites W2030099389 @default.
- W2613307380 cites W2041467022 @default.
- W2613307380 cites W2059542829 @default.
- W2613307380 cites W2078528120 @default.
- W2613307380 cites W2087036932 @default.
- W2613307380 cites W2096791516 @default.
- W2613307380 cites W2099096028 @default.
- W2613307380 cites W2104549677 @default.
- W2613307380 cites W2105753034 @default.
- W2613307380 cites W2108889957 @default.
- W2613307380 cites W2115193738 @default.
- W2613307380 cites W2119586206 @default.
- W2613307380 cites W2132731072 @default.
- W2613307380 cites W2133520037 @default.
- W2613307380 cites W2138138356 @default.
- W2613307380 cites W2148864810 @default.
- W2613307380 cites W2161245845 @default.
- W2613307380 cites W2171777347 @default.
- W2613307380 cites W2211504288 @default.
- W2613307380 cites W2216458865 @default.
- W2613307380 cites W2273953524 @default.
- W2613307380 cites W2408850291 @default.
- W2613307380 cites W2510973425 @default.
- W2613307380 cites W2511515754 @default.
- W2613307380 cites W2614730413 @default.
- W2613307380 cites W4211004056 @default.
- W2613307380 cites W4240204556 @default.
- W2613307380 doi "https://doi.org/10.1002/humu.23247" @default.
- W2613307380 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28493391" @default.
- W2613307380 hasPublicationYear "2017" @default.
- W2613307380 type Work @default.
- W2613307380 sameAs 2613307380 @default.
- W2613307380 citedByCount "32" @default.
- W2613307380 countsByYear W26133073802017 @default.
- W2613307380 countsByYear W26133073802018 @default.
- W2613307380 countsByYear W26133073802019 @default.
- W2613307380 countsByYear W26133073802020 @default.
- W2613307380 countsByYear W26133073802021 @default.
- W2613307380 countsByYear W26133073802022 @default.
- W2613307380 countsByYear W26133073802023 @default.
- W2613307380 crossrefType "journal-article" @default.
- W2613307380 hasAuthorship W2613307380A5004324001 @default.
- W2613307380 hasAuthorship W2613307380A5008259206 @default.
- W2613307380 hasAuthorship W2613307380A5010641221 @default.
- W2613307380 hasAuthorship W2613307380A5014697122 @default.
- W2613307380 hasAuthorship W2613307380A5014961175 @default.
- W2613307380 hasAuthorship W2613307380A5016454136 @default.
- W2613307380 hasAuthorship W2613307380A5017009749 @default.
- W2613307380 hasAuthorship W2613307380A5029948119 @default.
- W2613307380 hasAuthorship W2613307380A5031530236 @default.
- W2613307380 hasAuthorship W2613307380A5031790953 @default.
- W2613307380 hasAuthorship W2613307380A5035009040 @default.
- W2613307380 hasAuthorship W2613307380A5041855356 @default.
- W2613307380 hasAuthorship W2613307380A5045241030 @default.
- W2613307380 hasAuthorship W2613307380A5048437397 @default.
- W2613307380 hasAuthorship W2613307380A5053735474 @default.
- W2613307380 hasAuthorship W2613307380A5054487026 @default.
- W2613307380 hasAuthorship W2613307380A5057695261 @default.
- W2613307380 hasAuthorship W2613307380A5060284510 @default.
- W2613307380 hasAuthorship W2613307380A5060343222 @default.
- W2613307380 hasAuthorship W2613307380A5062661345 @default.
- W2613307380 hasBestOaLocation W26133073801 @default.
- W2613307380 hasConcept C104317684 @default.
- W2613307380 hasConcept C105795698 @default.
- W2613307380 hasConcept C106208931 @default.
- W2613307380 hasConcept C126322002 @default.
- W2613307380 hasConcept C135763542 @default.
- W2613307380 hasConcept C141231307 @default.
- W2613307380 hasConcept C153209595 @default.
- W2613307380 hasConcept C160798450 @default.
- W2613307380 hasConcept C186413461 @default.