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Items: 1 to 20 of 158

1.

Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel.

Mitt M, Kals M, Pärn K, Gabriel SB, Lander ES, Palotie A, Ripatti S, Morris AP, Metspalu A, Esko T, Mägi R, Palta P.

Eur J Hum Genet. 2017 Jun;25(7):869-876. doi: 10.1038/ejhg.2017.51. Epub 2017 Apr 12.

2.

Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs.

Pistis G, Porcu E, Vrieze SI, Sidore C, Steri M, Danjou F, Busonero F, Mulas A, Zoledziewska M, Maschio A, Brennan C, Lai S, Miller MB, Marcelli M, Urru MF, Pitzalis M, Lyons RH, Kang HM, Jones CM, Angius A, Iacono WG, Schlessinger D, McGue M, Cucca F, Abecasis GR, Sanna S.

Eur J Hum Genet. 2015 Jul;23(7):975-83. doi: 10.1038/ejhg.2014.216. Epub 2014 Oct 8.

3.

Improving power of association tests using multiple sets of imputed genotypes from distributed reference panels.

Zhou W, Fritsche LG, Das S, Zhang H, Nielsen JB, Holmen OL, Chen J, Lin M, Elvestad MB, Hveem K, Abecasis GR, Kang HM, Willer CJ.

Genet Epidemiol. 2017 Dec;41(8):744-755. doi: 10.1002/gepi.22067. Epub 2017 Sep 1.

4.

Effect of genome-wide genotyping and reference panels on rare variants imputation.

Zheng HF, Ladouceur M, Greenwood CM, Richards JB.

J Genet Genomics. 2012 Oct 20;39(10):545-50. doi: 10.1016/j.jgg.2012.07.002. Epub 2012 Jul 24.

PMID:
23089364
5.

Genotype imputation performance of three reference panels using African ancestry individuals.

Vergara C, Parker MM, Franco L, Cho MH, Valencia-Duarte AV, Beaty TH, Duggal P.

Hum Genet. 2018 Apr;137(4):281-292. doi: 10.1007/s00439-018-1881-4. Epub 2018 Apr 10.

6.

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.

Huang J, Howie B, McCarthy S, Memari Y, Walter K, Min JL, Danecek P, Malerba G, Trabetti E, Zheng HF; UK10K Consortium, Gambaro G, Richards JB, Durbin R, Timpson NJ, Marchini J, Soranzo N.

Nat Commun. 2015 Sep 14;6:8111. doi: 10.1038/ncomms9111.

7.

A combined reference panel from the 1000 Genomes and UK10K projects improved rare variant imputation in European and Chinese samples.

Chou WC, Zheng HF, Cheng CH, Yan H, Wang L, Han F, Richards JB, Karasik D, Kiel DP, Hsu YH.

Sci Rep. 2016 Dec 22;6:39313. doi: 10.1038/srep39313.

8.

Evaluation of the accuracy of imputed sequence variant genotypes and their utility for causal variant detection in cattle.

Pausch H, MacLeod IM, Fries R, Emmerling R, Bowman PJ, Daetwyler HD, Goddard ME.

Genet Sel Evol. 2017 Feb 21;49(1):24. doi: 10.1186/s12711-017-0301-x.

9.

Genotype imputation of Metabochip SNPs using a study-specific reference panel of ~4,000 haplotypes in African Americans from the Women's Health Initiative.

Liu EY, Buyske S, Aragaki AK, Peters U, Boerwinkle E, Carlson C, Carty C, Crawford DC, Haessler J, Hindorff LA, Marchand LL, Manolio TA, Matise T, Wang W, Kooperberg C, North KE, Li Y.

Genet Epidemiol. 2012 Feb;36(2):107-17. doi: 10.1002/gepi.21603.

10.

Accuracy of imputation using the most common sires as reference population in layer chickens.

Heidaritabar M, Calus MP, Vereijken A, Groenen MA, Bastiaansen JW.

BMC Genet. 2015 Aug 18;16:101. doi: 10.1186/s12863-015-0253-5.

11.

Improving accuracy of rare variant imputation with a two-step imputation approach.

Kreiner-Møller E, Medina-Gomez C, Uitterlinden AG, Rivadeneira F, Estrada K.

Eur J Hum Genet. 2015 Mar;23(3):395-400. doi: 10.1038/ejhg.2014.91. Epub 2014 Jun 18.

12.

Whole-genome characterization in pedigreed non-human primates using genotyping-by-sequencing (GBS) and imputation.

Bimber BN, Raboin MJ, Letaw J, Nevonen KA, Spindel JE, McCouch SR, Cervera-Juanes R, Spindel E, Carbone L, Ferguson B, Vinson A.

BMC Genomics. 2016 Aug 24;17:676. doi: 10.1186/s12864-016-2966-x.

13.

Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'.

Deelen P, Menelaou A, van Leeuwen EM, Kanterakis A, van Dijk F, Medina-Gomez C, Francioli LC, Hottenga JJ, Karssen LC, Estrada K, Kreiner-Møller E, Rivadeneira F, van Setten J, Gutierrez-Achury J, Westra HJ, Franke L, van Enckevort D, Dijkstra M, Byelas H, van Duijn CM; Genome of Netherlands Consortium, de Bakker PI, Wijmenga C, Swertz MA.

Eur J Hum Genet. 2014 Nov;22(11):1321-6. doi: 10.1038/ejhg.2014.19. Epub 2014 Jun 4.

14.

Consequences of splitting whole-genome sequencing effort over multiple breeds on imputation accuracy.

Bouwman AC, Veerkamp RF.

BMC Genet. 2014 Oct 3;15:105. doi: 10.1186/s12863-014-0105-8.

15.

Founder population-specific HapMap panel increases power in GWA studies through improved imputation accuracy and CNV tagging.

Surakka I, Kristiansson K, Anttila V, Inouye M, Barnes C, Moutsianas L, Salomaa V, Daly M, Palotie A, Peltonen L, Ripatti S.

Genome Res. 2010 Oct;20(10):1344-51. doi: 10.1101/gr.106534.110. Epub 2010 Sep 1.

16.

Performance of genotype imputation for low frequency and rare variants from the 1000 genomes.

Zheng HF, Rong JJ, Liu M, Han F, Zhang XW, Richards JB, Wang L.

PLoS One. 2015 Jan 26;10(1):e0116487. doi: 10.1371/journal.pone.0116487. eCollection 2015.

17.

Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.

Southam L, Gilly A, Süveges D, Farmaki AE, Schwartzentruber J, Tachmazidou I, Matchan A, Rayner NW, Tsafantakis E, Karaleftheri M, Xue Y, Dedoussis G, Zeggini E.

Nat Commun. 2017 May 26;8:15606. doi: 10.1038/ncomms15606.

18.
19.

Inclusion of Population-specific Reference Panel from India to the 1000 Genomes Phase 3 Panel Improves Imputation Accuracy.

Ahmad M, Sinha A, Ghosh S, Kumar V, Davila S, Yajnik CS, Chandak GR.

Sci Rep. 2017 Jul 27;7(1):6733. doi: 10.1038/s41598-017-06905-6.

20.

Assessment of genotype imputation performance using 1000 Genomes in African American studies.

Hancock DB, Levy JL, Gaddis NC, Bierut LJ, Saccone NL, Page GP, Johnson EO.

PLoS One. 2012;7(11):e50610. doi: 10.1371/journal.pone.0050610. Epub 2012 Nov 30.

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