000137632 001__ 137632 000137632 005__ 20240321220302.0 000137632 0247_ $$2doi$$a10.1093/bioinformatics/btu496 000137632 0247_ $$2pmid$$apmid:25075118 000137632 0247_ $$2ISSN$$a0266-7061 000137632 0247_ $$2ISSN$$a1367-4803 000137632 0247_ $$2ISSN$$a1367-4811 000137632 0247_ $$2ISSN$$a1460-2059 000137632 0247_ $$2altmetric$$aaltmetric:2558370 000137632 037__ $$aDZNE-2020-03954 000137632 041__ $$aEnglish 000137632 082__ $$a570 000137632 1001_ $$0P:(DE-HGF)0$$aChoi, Sungkyoung$$b0 000137632 245__ $$aFARVAT: a family-based rare variant association test. 000137632 260__ $$aOxford$$bOxford Univ. Press$$c2014 000137632 264_1 $$2Crossref$$3online$$bOxford University Press (OUP)$$c2014-07-29 000137632 264_1 $$2Crossref$$3print$$bOxford University Press (OUP)$$c2014-11-15 000137632 3367_ $$2DRIVER$$aarticle 000137632 3367_ $$2DataCite$$aOutput Types/Journal article 000137632 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1588080504_27523 000137632 3367_ $$2BibTeX$$aARTICLE 000137632 3367_ $$2ORCID$$aJOURNAL_ARTICLE 000137632 3367_ $$00$$2EndNote$$aJournal Article 000137632 520__ $$aIndividuals in each family are genetically more homogeneous than unrelated individuals, and family-based designs are often recommended for the analysis of rare variants. However, despite the importance of family-based samples analysis, few statistical methods for rare variant association analysis are available.In this report, we propose a FAmily-based Rare Variant Association Test (FARVAT). FARVAT is based on the quasi-likelihood of whole families, and is statistically and computationally efficient for the extended families. FARVAT assumed that families were ascertained with the disease status of family members, and incorporation of the estimated genetic relationship matrix to the proposed method provided robustness under the presence of the population substructure. Depending on the choice of working matrix, our method could be a burden test or a variance component test, and could be extended to the SKAT-O-type statistic. FARVAT was implemented in C++, and application of the proposed method to schizophrenia data and simulated data for GAW17 illustrated its practical importance.The software calculates various statistics for the analysis of related samples, and it is freely downloadable from http://healthstats.snu.ac.kr/software/farvat.won1@snu.ac.kr or tspark@stats.snu.ac.krsupplementary data are available at Bioinformatics online. 000137632 536__ $$0G:(DE-HGF)POF3-345$$a345 - Population Studies and Genetics (POF3-345)$$cPOF3-345$$fPOF III$$x0 000137632 588__ $$aDataset connected to CrossRef, PubMed, 000137632 650_2 $$2MeSH$$aFamily 000137632 650_2 $$2MeSH$$aGenetic Association Studies: methods 000137632 650_2 $$2MeSH$$aGenetic Variation 000137632 650_2 $$2MeSH$$aHumans 000137632 650_2 $$2MeSH$$aSchizophrenia: genetics 000137632 650_2 $$2MeSH$$aSoftware 000137632 7001_ $$0P:(DE-HGF)0$$aLee, Sungyoung$$b1 000137632 7001_ $$0P:(DE-HGF)0$$aCichon, Sven$$b2 000137632 7001_ $$0P:(DE-HGF)0$$aNöthen, Markus M$$b3 000137632 7001_ $$0P:(DE-2719)9000181$$aLange, Christoph$$b4$$udzne 000137632 7001_ $$0P:(DE-HGF)0$$aPark, Taesung$$b5$$eCorresponding author 000137632 7001_ $$0P:(DE-HGF)0$$aWon, Sungho$$b6 000137632 77318 $$2Crossref$$3journal-article$$a10.1093/bioinformatics/btu496$$b : Oxford University Press (OUP), 2014-07-29$$n22$$p3197-3205$$tBioinformatics$$v30$$x1460-2059$$y2014 000137632 773__ $$0PERI:(DE-600)1468345-3$$a10.1093/bioinformatics/btu496$$gVol. 30, no. 22, p. 3197 - 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