Genome-Wide Association Study

A polygenic burden of rare disruptive mutations in schizophrenia.

Purcell SM, Moran JL, Fromer M, et al. A polygenic burden of rare disruptive mutations in schizophrenia. Nature. 2014;506(7487):185-90. doi:10.1038/nature12975

Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.

Ruderfer DM, Fanous AH, Ripke S, et al. Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia. Mol Psychiatry. 2014;19(9):1017-24. doi:10.1038/mp.2013.138

Pilot investigation of isradipine in the treatment of bipolar depression motivated by genome-wide association.

Ostacher MJ, Iosifescu DV, Hay A, Blumenthal SR, Sklar P, Perlis RH. Pilot investigation of isradipine in the treatment of bipolar depression motivated by genome-wide association. Bipolar Disord. 2014;16(2):199-203. doi:10.1111/bdi.12143

Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.

Service SK, Teslovich TM, Fuchsberger C, et al. Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci. PLoS Genet. 2014;10(1):e1004147. doi:10.1371/journal.pgen.1004147

High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms.

Kurki MI, Gaál EI, Kettunen J, et al. High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms. PLoS Genet. 2014;10(1):e1004134. doi:10.1371/journal.pgen.1004134

Comprehensive functional annotation of 77 prostate cancer risk loci.

Hazelett DJ, Rhie SK, Gaddis M, et al. Comprehensive functional annotation of 77 prostate cancer risk loci. PLoS Genet. 2014;10(1):e1004102. doi:10.1371/journal.pgen.1004102

Building a pipeline to discover and validate novel therapeutic targets and lead compounds for Alzheimer's disease.

Bennett DA, Yu L, De Jager PL. Building a pipeline to discover and validate novel therapeutic targets and lead compounds for Alzheimer’s disease. Biochem Pharmacol. 2014;88(4):617-30. doi:10.1016/j.bcp.2014.01.037

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.

Lange LA, Hu Y, Zhang H, et al. Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. Am J Hum Genet. 2014;94(2):233-45. doi:10.1016/j.ajhg.2014.01.010

Chromosome X-wide association study identifies Loci for fasting insulin and height and evidence for incomplete dosage compensation.

Tukiainen T, Pirinen M, Sarin AP, et al. Chromosome X-wide association study identifies Loci for fasting insulin and height and evidence for incomplete dosage compensation. PLoS Genet. 2014;10(2):e1004127. doi:10.1371/journal.pgen.1004127

Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24.

Agler C, Nielsen DM, Urkasemsin G, et al. Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24. PLoS Genet. 2014;10(2):e1003991. doi:10.1371/journal.pgen.1003991

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