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Items: 1 to 20 of 100

1.

Testing for an unusual distribution of rare variants.

Neale BM, Rivas MA, Voight BF, Altshuler D, Devlin B, Orho-Melander M, Kathiresan S, Purcell SM, Roeder K, Daly MJ.

PLoS Genet. 2011 Mar;7(3):e1001322. doi: 10.1371/journal.pgen.1001322. Epub 2011 Mar 3.

2.

A new testing strategy to identify rare variants with either risk or protective effect on disease.

Ionita-Laza I, Buxbaum JD, Laird NM, Lange C.

PLoS Genet. 2011 Feb 3;7(2):e1001289. doi: 10.1371/journal.pgen.1001289.

3.

Reconsidering association testing methods using single-variant test statistics as alternatives to pooling tests for sequence data with rare variants.

Kinnamon DD, Hershberger RE, Martin ER.

PLoS One. 2012;7(2):e30238. doi: 10.1371/journal.pone.0030238. Epub 2012 Feb 17.

4.

Optimal tests for rare variant effects in sequencing association studies.

Lee S, Wu MC, Lin X.

Biostatistics. 2012 Sep;13(4):762-75. doi: 10.1093/biostatistics/kxs014. Epub 2012 Jun 14.

5.
6.

A robust model-free approach for rare variants association studies incorporating gene-gene and gene-environmental interactions.

Fan R, Lo SH.

PLoS One. 2013 Dec 17;8(12):e83057. doi: 10.1371/journal.pone.0083057. eCollection 2013. Erratum in: PLoS One. 2014;9(5):e98083.

7.

A flexible approach for the analysis of rare variants allowing for a mixture of effects on binary or quantitative traits.

Clarke GM, Rivas MA, Morris AP.

PLoS Genet. 2013;9(8):e1003694. doi: 10.1371/journal.pgen.1003694. Epub 2013 Aug 15.

8.

KNOWLEDGE DRIVEN BINNING AND PHEWAS ANALYSIS IN MARSHFIELD PERSONALIZED MEDICINE RESEARCH PROJECT USING BIOBIN.

Basile AO, Wallace JR, Peissig P, McCarty CA, Brilliant M, Ritchie MD.

Pac Symp Biocomput. 2016;21:249-60.

9.

BETASEQ: a powerful novel method to control type-I error inflation in partially sequenced data for rare variant association testing.

Yan S, Li Y.

Bioinformatics. 2014 Feb 15;30(4):480-7. doi: 10.1093/bioinformatics/btt719. Epub 2013 Dec 12.

10.

Sequence kernel association tests for the combined effect of rare and common variants.

Ionita-Laza I, Lee S, Makarov V, Buxbaum JD, Lin X.

Am J Hum Genet. 2013 Jun 6;92(6):841-53. doi: 10.1016/j.ajhg.2013.04.015. Epub 2013 May 16.

11.

Smoothed functional principal component analysis for testing association of the entire allelic spectrum of genetic variation.

Luo L, Zhu Y, Xiong M.

Eur J Hum Genet. 2013 Feb;21(2):217-24. doi: 10.1038/ejhg.2012.141. Epub 2012 Jul 11.

12.

A new expectation-maximization statistical test for case-control association studies considering rare variants obtained by high-throughput sequencing.

Gordon D, Finch SJ, De La Vega FM.

Hum Hered. 2011;71(2):113-25. doi: 10.1159/000325590. Epub 2011 Jul 6. Erratum in: Hum Hered. 2011;72(1):53. De La Vega, Francisco [corrected to De La Vega, Francisco M].

PMID:
21734402
13.

A haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysis.

Chen R, Wei Q, Zhan X, Zhong X, Sutcliffe JS, Cox NJ, Cook EH, Li C, Chen W, Li B.

Bioinformatics. 2015 May 1;31(9):1452-9. doi: 10.1093/bioinformatics/btu860. Epub 2015 Jan 6.

14.

A fast and noise-resilient approach to detect rare-variant associations with deep sequencing data for complex disorders.

Cheung YH, Wang G, Leal SM, Wang S.

Genet Epidemiol. 2012 Nov;36(7):675-85. doi: 10.1002/gepi.21662. Epub 2012 Aug 3.

PMID:
22865616
15.

Meta-Analysis of Rare Variant Association Tests in Multiethnic Populations.

Mensah-Ablorh A, Lindstrom S, Haiman CA, Henderson BE, Marchand LL, Lee S, Stram DO, Eliassen AH, Price A, Kraft P.

Genet Epidemiol. 2016 Jan;40(1):57-65. doi: 10.1002/gepi.21939. Epub 2015 Dec 7.

16.

Imputation-based assessment of next generation rare exome variant arrays.

Martin AR, Tse G, Bustamante CD, Kenny EE.

Pac Symp Biocomput. 2014:241-52.

17.

Rare variant association testing by adaptive combination of P-values.

Lin WY, Lou XY, Gao G, Liu N.

PLoS One. 2014 Jan 15;9(1):e85728. doi: 10.1371/journal.pone.0085728. eCollection 2014.

18.

Weighted Score Tests Implementing Model-Averaging Schemes in Detection of Rare Variants in Case-Control Studies.

Coombes B, Basu S, Guha S, Schork N.

PLoS One. 2015 Oct 5;10(10):e0139355. doi: 10.1371/journal.pone.0139355. eCollection 2015.

19.

Adjusted sequence kernel association test for rare variants controlling for cryptic and family relatedness.

Oualkacha K, Dastani Z, Li R, Cingolani PE, Spector TD, Hammond CJ, Richards JB, Ciampi A, Greenwood CM.

Genet Epidemiol. 2013 May;37(4):366-76. doi: 10.1002/gepi.21725. Epub 2013 Mar 25.

PMID:
23529756
20.

Likelihood ratio and score burden tests for detecting disease-associated rare variants.

Lee W, Lee D, Pawitan Y.

Stat Appl Genet Mol Biol. 2015 Nov;14(5):481-95. doi: 10.1515/sagmb-2014-0089.

PMID:
26426897

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