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Items: 1 to 20 of 69


Family-based association tests for sequence data, and comparisons with population-based association tests.

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

Eur J Hum Genet. 2013 Oct;21(10):1158-62. doi: 10.1038/ejhg.2012.308. Epub 2013 Feb 6.


Meta-analysis of sequencing studies with heterogeneous genetic associations.

Tang ZZ, Lin DY.

Genet Epidemiol. 2014 Jul;38(5):389-401. doi: 10.1002/gepi.21798. Epub 2014 May 5.


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.


Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies.

Lee S, Emond MJ, Bamshad MJ, Barnes KC, Rieder MJ, Nickerson DA; NHLBI GO Exome Sequencing Project—ESP Lung Project Team, Christiani DC, Wurfel MM, Lin X.

Am J Hum Genet. 2012 Aug 10;91(2):224-37. doi: 10.1016/j.ajhg.2012.06.007. Epub 2012 Aug 2.


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.


Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.

Liu L, Sabo A, Neale BM, Nagaswamy U, Stevens C, Lim E, Bodea CA, Muzny D, Reid JG, Banks E, Coon H, Depristo M, Dinh H, Fennel T, Flannick J, Gabriel S, Garimella K, Gross S, Hawes A, Lewis L, Makarov V, Maguire J, Newsham I, Poplin R, Ripke S, Shakir K, Samocha KE, Wu Y, Boerwinkle E, Buxbaum JD, Cook EH Jr, Devlin B, Schellenberg GD, Sutcliffe JS, Daly MJ, Gibbs RA, Roeder K.

PLoS Genet. 2013 Apr;9(4):e1003443. doi: 10.1371/journal.pgen.1003443. Epub 2013 Apr 11.


A powerful nonparametric statistical framework for family-based association analyses.

Li M, He Z, Schaid DJ, Cleves MA, Nick TG, Lu Q.

Genetics. 2015 May;200(1):69-78. doi: 10.1534/genetics.115.175174. Epub 2015 Mar 5.


Region-based association tests for sequencing data on survival traits.

Chien LC, Bowden DW, Chiu YF.

Genet Epidemiol. 2017 Jun 4. doi: 10.1002/gepi.22054. [Epub ahead of print]


Weighted pedigree-based statistics for testing the association of rare variants.

Shugart YY, Zhu Y, Guo W, Xiong M.

BMC Genomics. 2012 Nov 24;13:667. doi: 10.1186/1471-2164-13-667.


Rare variant association test in family-based sequencing studies.

Wang X, Zhang Z, Morris N, Cai T, Lee S, Wang C, Yu TW, Walsh CA, Lin X.

Brief Bioinform. 2016 Sep 26. pii: bbw083. [Epub ahead of print]


Accurate local-ancestry inference in exome-sequenced admixed individuals via off-target sequence reads.

Hu Y, Willer C, Zhan X, Kang HM, Abecasis GR.

Am J Hum Genet. 2013 Nov 7;93(5):891-9. doi: 10.1016/j.ajhg.2013.10.008.


Two-stage testing strategies for genome-wide association studies in family-based designs.

Murphy A, T Weiss S, Lange C.

Methods Mol Biol. 2010;620:485-96. doi: 10.1007/978-1-60761-580-4_17.


The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders.

Buxbaum JD, Daly MJ, Devlin B, Lehner T, Roeder K, State MW; Autism Sequencing Consortium.

Neuron. 2012 Dec 20;76(6):1052-6. doi: 10.1016/j.neuron.2012.12.008.


Ancestry estimation and control of population stratification for sequence-based association studies.

Wang C, Zhan X, Bragg-Gresham J, Kang HM, Stambolian D, Chew EY, Branham KE, Heckenlively J; FUSION Study, Fulton R, Wilson RK, Mardis ER, Lin X, Swaroop A, Zöllner S, Abecasis GR.

Nat Genet. 2014 Apr;46(4):409-15. doi: 10.1038/ng.2924. Epub 2014 Mar 16.


Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.

Tammimies K, Marshall CR, Walker S, Kaur G, Thiruvahindrapuram B, Lionel AC, Yuen RK, Uddin M, Roberts W, Weksberg R, Woodbury-Smith M, Zwaigenbaum L, Anagnostou E, Wang Z, Wei J, Howe JL, Gazzellone MJ, Lau L, Sung WW, Whitten K, Vardy C, Crosbie V, Tsang B, D'Abate L, Tong WW, Luscombe S, Doyle T, Carter MT, Szatmari P, Stuckless S, Merico D, Stavropoulos DJ, Scherer SW, Fernandez BA.

JAMA. 2015 Sep 1;314(9):895-903. doi: 10.1001/jama.2015.10078.


Two adaptive weighting methods to test for rare variant associations in family-based designs.

Fang S, Sha Q, Zhang S.

Genet Epidemiol. 2012 Jul;36(5):499-507. doi: 10.1002/gepi.21646. Epub 2012 Jun 1.


Intellectual disability is associated with increased runs of homozygosity in simplex autism.

Gamsiz ED, Viscidi EW, Frederick AM, Nagpal S, Sanders SJ, Murtha MT, Schmidt M; Simons Simplex Collection Genetics Consortium, Triche EW, Geschwind DH, State MW, Istrail S, Cook EH Jr, Devlin B, Morrow EM.

Am J Hum Genet. 2013 Jul 11;93(1):103-9. doi: 10.1016/j.ajhg.2013.06.004. Epub 2013 Jul 3.


FFBSKAT: fast family-based sequence kernel association test.

Svishcheva GR, Belonogova NM, Axenovich TI.

PLoS One. 2014 Jun 6;9(6):e99407. doi: 10.1371/journal.pone.0099407. eCollection 2014.


Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland.

Wang SR, Agarwala V, Flannick J, Chiang CW, Altshuler D; GoT2D Consortium, Hirschhorn JN.

Am J Hum Genet. 2014 May 1;94(5):710-20. doi: 10.1016/j.ajhg.2014.03.019. Epub 2014 Apr 24.


On the statistical properties of family-based association tests in datasets containing both pedigrees and unrelated case-control samples.

Hiekkalinna T, Göring HH, Lambert B, Weiss KM, Norrgrann P, Schäffer AA, Terwilliger JD.

Eur J Hum Genet. 2012 Feb;20(2):217-23. doi: 10.1038/ejhg.2011.173. Epub 2011 Sep 21.

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