Mining gold dust under the genome-wide significance level: A two stage approach to analysis of GWAS.

Shi G, Boerwinkle E, Morrison AC, Gu CC, Chakravarti A, Rao DC: Mining gold dust under the genome-wide significance level: A two stage approach to analysis of GWAS. Genet Epid 35:111-118, 2011. PMID 21254218. PMC3624896.

Five blood pressure loci identified by genome-wide linkage analysis of the large Family Blood Pressure Program.

Simino J, Shi G, Kume R, Schwander K, Province MA, Gu CC, Kardia S, Chakravarti A, Ehret G, Olshen RA, Turner ST, Ho L-T, Zhu X, Jaquish C, Paltoo D, Cooper RS, Weder A, Curb JD, Boerwinkle E, Hunt SC, Rao DC: Five blood pressure loci identified by genome-wide linkage analysis of the large Family Blood Pressure Program. Amer J Hypertension 24:347-354, 2011. PMID 21151011. PMC3405908.

Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.

Sotoodehnia N, Isaacs A, de Bakker PI, Dörr M, Newton-Cheh C, Nolte IM, van der Harst P, Müller M, Eijgelsheim M, Alonso A, Hicks AA, Padmanabhan S, Hayward C, Smith AV, Polasek O, Giovannone S, Fu J, Magnani JW, Marciante KD, Pfeufer A, Gharib SA, Teumer A, Li M, Bis JC, Rivadeneira F, Aspelund T, Köttgen A, Johnson T, Rice K, Sie MP, Wang YA, Klopp N, Fuchsberger C, Wild SH, Mateo Leach I, Estrada K, Völker U, Wright AF, Asselbergs FW, Qu J, Chakravarti A, Sinner MF, Kors JA, Petersmann A, Harris TB, Soliman EZ, Munroe PB, Psaty BM, Oostra BA, Cupples LA, Perz S, de Boer RA, Uitterlinden AG, Völzke H, Spector TD, Liu FY, Boerwinkle E, Dominiczak AF, Rotter JI, van Herpen G, Levy D, Wichmann HE, van Gilst WH, Witteman JC, Kroemer HK, Kao WH, Heckbert SR, Meitinger T, Hofman A, Campbell H, Folsom AR, van Veldhuisen DJ, Schwienbacher C, O’Donnell CJ, Volpato CB, Caulfield MJ, Connell JM, Launer L, Lu X, Franke L, Fehrmann RS, te Meerman G, Groen HJ, Weersma RK, van den Berg LH, Wijmenga C, Ophoff RA, Navis G, Rudan I, Snieder H, Wilson JF, Pramstaller PP, Siscovick DS, Wang TJ, Gudnason V, van Duijn CM, Felix SB, Fishman GI, Jamshidi Y, Stricker BH, Samani NJ, Kääb S, Arking DE: Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet 42:1068-1076, 2010. PMID 21076409. PMC3338195.

Diversity of human copy number variation and multicopy genes.

Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn  L, Shendure J, The 1000 Genomes Project Consortium, Eichler EE: Diversity of human copy number variation and multicopy genes. Science 330:641-646, 2010. PMID 21030649. PMC3020103.

A map of human genome variation from population- scale sequencing.

The 1000 Genomes Project Consortium: A map of human genome variation from population- scale sequencing. Nature 467:1061-1073, 2010. PMID 20981092. PMC3042601.

Parent-Of-Origin Effects in Autism Identified Through Genome-Wide Linkage Analysis of 16,000 SNPs.

Fradin D, Cheslack-Postava K, Ladd-Acosta C, Newschaffer C, Chakravarti A, Arking DE, Feinberg A, Fallin MD: Parent-Of-Origin Effects in Autism Identified Through Genome-Wide Linkage Analysis of 16,000 SNPs. PLoS One 5:e12513, 2010. PMID 20824079. PMC2932694.

A multilevel model to address batch effects in copy number estimation using SNP arrays.

Scharpf RB, Ruczinski I, Carvalho B, Doan B, Chakravarti A, Irizarry R: A multilevel model to address batch effects in copy number estimation using SNP arrays. Biostatistics 12:33-50, 2010. PMID 20625178. PMC3006124.

Genome-wide association studies of serum magnesium, potassium and sodium concentrations identify six novel loci influencing serum magnesium levels.

Meyer TE, Verwoert GC, Hwang SJ, Glazer NL, Smith AV, van Rooij FJ, Ehret GB, Boerwinkle E, Felix JF, Leak TS, Harris TB, Yang Q, Dehghan A, Aspelund T, Katz R, Homuth G, Kocher T, Rettig R, Ried JS, Gieger C, Prucha H, Pfeufer A, Meitinger T, Coresh J, Hofman A, Sarnak MJ, Chen YD, Uitterlinden AG, Chakravarti A, Psaty BM, van Duijn CM, Kao WH, Witteman JC, Gudnason V, Siscovick DS, Fox CS, Köttgen A; Genetic Factors for Osteoporosis Consortium; Meta Analysis of Glucose and Insulin Related Traits Consortium: Genome-wide association studies of serum magnesium, potassium and sodium concentrations identify six novel loci influencing serum magnesium levels. PLoS Genet 6: e1001045, 2010. PMID 20700443. PMC2916845.

Polymorphisms in the mitochondrial DNA control region and frailty in older adults.

Moore AZ, Biggs M, Matteini A, O’Conner A, McGuire S, Beamer B, Fallin D, Fried L, Walston J, Chakravarti A, Arking D: Polymorphisms in the mitochondrial DNA control region and frailty in older adults. PLoS One 5:e11069, 2010. PMID 20548781. PMC2883558.

Differential contributions of mutations across the allelic spectrum of RET to multifactorial Hirschsprung disease liability.

Emison E, International Hirschsprung Disease Consortium, Chakravarti A: Differential contributions of mutations across the allelic spectrum of RET to multifactorial Hirschsprung disease liability. Amer J Hum Genet 87:60-74, 2010. PMID 20598273. PMC2896767.