Rare Genomic Structural Variants in Complex Disease: Lessons from the Replication of Associations with Obesity
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Andres Metspalu | Beverley Balkau | Robin G. Walters | Philippe Froguel | Henry Völzke | Matthias Nauck | David Meyre | Jacques S. Beckmann | Sebastien Jacquemont | Gudmar Thorleifsson | Rob Sladek | Tõnu Esko | Paul Elliott | Alexandra I. F. Blakemore | Marjo-Riitta Järvelin | Armand Valsesia | Unnur Thorsteinsdóttir | Jaana Laitinen | Katrin Männik | Peter Vollenweider | Anna-Liisa Hartikainen | P. Elliott | L. Coin | A. Valsesia | U. Thorsteinsdóttir | K. Stefánsson | J. Beckmann | H. Völzke | G. Thorleifsson | A. Metspalu | T. Esko | R. Sladek | B. Balkau | D. Meyre | P. Froguel | M. Järvelin | C. Schurmann | P. Vollenweider | G. Waeber | F. Pattou | A. Hartikainen | A. Ruokonen | M. Nauck | J. Laitinen | A. Blakemore | S. Jacquemont | R. Walters | A. D. de Smith | Flore Zufferey | K. Männik | D. Martinet | Gerard Waeber | Lachlan J. M. Coin | Aimo Ruokonen | Adam J. de Smith | Julia S. El-Sayed Moustafa | Danielle Martinet | Claudia Schurmann | Flore Zufferey | François Pattou | Kári Stefansson | J. E. El-sayed Moustafa
[1] D. Kiel,et al. Eight Common Genetic Variants Associated with Serum DHEAS Levels Suggest a Key Role in Ageing Mechanisms , 2011, PLoS genetics.
[2] Yurii S. Aulchenko,et al. The Empirical Power of Rare Variant Association Methods: Results from Sanger Sequencing in 1,998 Individuals , 2012, PLoS genetics.
[3] Inês Barroso,et al. Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes , 2012, Nature Genetics.
[4] A. Zinn,et al. Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. , 2000, Human molecular genetics.
[5] L. Rui,et al. SH2B1 Enhances Insulin Sensitivity by Both Stimulating the Insulin Receptor and Inhibiting Tyrosine Dephosphorylation of Insulin Receptor Substrate Proteins , 2009, Diabetes.
[6] Ney Alliey-Rodriguez,et al. Accuracy of CNV Detection from GWAS Data , 2011, PloS one.
[7] C. V. Jongeneel,et al. Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort , 2012, BMC Genomics.
[8] P. Visscher,et al. Common SNPs explain a large proportion of heritability for human height , 2011 .
[9] André Scherag,et al. Novel common copy number variation for early onset extreme obesity on chromosome 11q11 identified by a genome-wide analysis , 2010, Human molecular genetics.
[10] M. King,et al. Genetic Heterogeneity in Human Disease , 2010, Cell.
[11] S. Potkin,et al. Genome-wide strategies for discovering genetic influences on cognition and cognitive disorders: Methodological considerations , 2009, Cognitive neuropsychiatry.
[12] P. Froguel,et al. The power of the extreme in elucidating obesity. , 2008, The New England journal of medicine.
[13] Barbara Heude,et al. Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations , 2009, Nature Genetics.
[14] D. Zwijnenburg,et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. , 2002, Nucleic acids research.
[15] Tanya M. Teslovich,et al. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index , 2010 .
[16] Susanne Walitza,et al. Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder , 2011, Nature Genetics.
[17] Eleftheria Zeggini,et al. Rare variant association analysis methods for complex traits. , 2010, Annual review of genetics.
[18] Thomas Meitinger,et al. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution , 2010, Nature Genetics.
[19] Hakon Hakonarson,et al. A genome-wide study reveals copy number variants exclusive to childhood obesity cases. , 2010, American journal of human genetics.
[20] M. Hurles,et al. Large, rare chromosomal deletions associated with severe early-onset obesity , 2010, Nature.
[21] R. Mägi,et al. Genetic Structure of Europeans: A View from the North–East , 2009, PloS one.
[22] W. Thilly,et al. A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST). , 2007, Mutation research.
[23] J. Pritchard,et al. Overcoming the winner's curse: estimating penetrance parameters from case-control data. , 2007, American journal of human genetics.
[24] Philippe Froguel,et al. cnvHap: an integrative population and haplotype–based multiplatform model of SNPs and CNVs , 2010, Nature Methods.
[25] M. Wigler,et al. Circular binary segmentation for the analysis of array-based DNA copy number data. , 2004, Biostatistics.
[26] Shashaank Vattikuti,et al. Heritability and Genetic Correlations Explained by Common SNPs for Metabolic Syndrome Traits , 2012, PLoS genetics.
[27] Xiangyin Kong,et al. Novel Association Strategy with Copy Number Variation for Identifying New Risk Loci of Human Diseases , 2010, PloS one.
[28] Daniel F. Gudbjartsson,et al. Parental origin of sequence variants associated with complex diseases , 2009, Nature.
[29] P. Elliott,et al. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus , 2011, Nature.
[30] C. Bogardus,et al. Common Variation in SIM1 Is Reproducibly Associated With BMI in Pi ma Indians , 2009, Diabetes.
[31] J. Rosenfeld,et al. Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity , 2010, Genetics in Medicine.
[32] C. Hoggart,et al. Genome-wide association analysis of metabolic traits in a birth cohort from a founder population , 2008, Nature Genetics.
[33] Jianping Ye,et al. Uncoupling of Inflammation and Insulin Resistance by NF-κB in Transgenic Mice through Elevated Energy Expenditure* , 2009, The Journal of Biological Chemistry.
[34] V. Salomaa,et al. Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia , 2010, Nature Genetics.
[35] Yan Guo,et al. Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population , 2009, Journal of Human Genetics.
[36] Joshua M. Korn,et al. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs , 2008, Nature Genetics.
[37] Joseph T. Glessner,et al. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. , 2007, Genome research.
[38] F. Paccaud,et al. Prevalence of obesity and abdominal obesity in the Lausanne population , 2008, BMC public health.
[39] L. Migliore,et al. Mutation Research / Fundamental and Molecular Mechanisms of Mutagenesis , 2014 .
[40] C. Yau,et al. QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data , 2007, Nucleic acids research.
[41] Isabelle Cleynen,et al. Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease , 2011, Nature Genetics.
[42] V. Bansal,et al. Statistical analysis strategies for association studies involving rare variants , 2010, Nature Reviews Genetics.
[43] D. Nyholt. A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. , 2004, American journal of human genetics.
[44] Edgar Erdfelder,et al. G*Power 3: A flexible statistical power analysis program for the social, behavioral, and biomedical sciences , 2007, Behavior research methods.
[45] D. Geschwind,et al. Human-Specific Transcriptional Regulation of CNS Development Genes by FOXP2 , 2009, Nature.
[46] Hongyu Zhao,et al. Genotyping and inflated type I error rate in genome-wide association case/control studies , 2009, BMC Bioinformatics.
[47] Philippe Froguel,et al. The genetic contribution to non-syndromic human obesity , 2009, Nature Reviews Genetics.
[48] Joseph T. Glessner,et al. Large Copy-Number Variations Are Enriched in Cases With Moderate to Extreme Obesity , 2010, Diabetes.
[49] W. Rathmann,et al. Cohort profile: the study of health in Pomerania. , 2011, International journal of epidemiology.
[50] Judy H. Cho,et al. Finding the missing heritability of complex diseases , 2009, Nature.
[51] D. Tsuang,et al. The Effect of Algorithms on Copy Number Variant Detection , 2010, PloS one.
[52] Christian Gieger,et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk , 2010, Nature Genetics.
[53] John S. Witte,et al. Comprehensive Approach to Analyzing Rare Genetic Variants , 2010, PloS one.
[54] E. S. Venkatraman,et al. A faster circular binary segmentation algorithm for the analysis of array CGH data , 2007, Bioinform..
[55] B. Heude,et al. INS VNTR Is Not Associated With Childhood Obesity in 1,023 Families: A Family‐based Study , 2008, Obesity.
[56] C I Amos,et al. Evolutionary evidence of the effect of rare variants on disease etiology , 2011, Clinical genetics.