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Single nucleotide polymorphisms

From Days to Hours: Reporting Clinically Actionable Variants from Whole Genome Sequencing

Sumit Middha, Saurabh Baheti, Steven N. Hart, Jean-Pierre A. Kocher

published 05 Feb 2014

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Evaluation of Whole Genome Sequencing for Outbreak Detection of Salmonella enterica

Pimlapas Leekitcharoenphon, Eva M. Nielsen, Rolf S. Kaas, Ole Lund, Frank M. Aarestrup

published 04 Feb 2014

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Mitochondrial Genome Sequencing in Mesolithic North East Europe Unearths a New Sub-Clade within the Broadly Distributed Human Haplogroup C1

Clio Der Sarkissian, Paul Brotherton, Oleg Balanovsky, Jennifer E. L. Templeton, Bastien Llamas, Julien Soubrier, Vyacheslav Moiseyev, Valery Khartanovich, Alan Cooper, Wolfgang Haak, The Genographic Consortium

published 04 Feb 2014

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PRODH Polymorphisms, Cortical Volumes and Thickness in Schizophrenia

Vanessa K. Ota, Fernanda T. Bellucco, Ary Gadelha, Marcos L. Santoro, Cristiano Noto, Denise M. Christofolini, Idaiane B. Assunção, Karen M. Yamada, Ândrea K. Ribeiro-dos-Santos, Sidney Santos, Jair J. Mari, Marília A. C. Smith, Maria I. Melaragno, Rodrigo A. Bressan, João R. Sato, Andrea P. Jackowski, Sintia I. Belangero

published 03 Feb 2014

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Glucokinase Regulatory Protein Gene Polymorphism Affects Liver Fibrosis in Non-Alcoholic Fatty Liver Disease

Salvatore Petta, Luca Miele, Elisabetta Bugianesi, Calogero Cammà, Chiara Rosso, Stefania Boccia, Daniela Cabibi, Vito Di Marco, Stefania Grimaudo, Antonio Grieco, Rosaria Maria Pipitone, Giulio Marchesini, Antonio Craxì

published 03 Feb 2014

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Transcriptomic Analysis of Endangered Chinese Salamander: Identification of Immune, Sex and Reproduction-Related Genes and Genetic Markers

Rongbo Che, Yuena Sun, Rixin Wang, Tianjun Xu

published 31 Jan 2014

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BMI-Associated Alleles Do Not Constitute Risk Alleles for Polycystic Ovary Syndrome Independently of BMI: A Case-Control Study

Yvonne V. Louwers, Nigel W. Rayner, Blanca M. Herrera, Lisette Stolk, Christopher J. Groves, Thomas M. Barber, Andre G. Uitterlinden, Stephen Franks, Joop S. E. Laven, Mark I. McCarthy

published 31 Jan 2014

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Metabotropic Glutamate Receptor 3 Is Associated with Heroin Dependence but Not Depression or Schizophrenia in a Chinese Population

Wei Jia, Rui Zhang, Bin Wu, Zun-xiao Dai, Yong-sheng Zhu, Ping-ping Li, Feng Zhu

published 31 Jan 2014

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Whole-Genome Pathway Analysis on 132,497 Individuals Identifies Novel Gene-Sets Associated with Body Mass Index

Matthew A. Simonson, Matthew B. McQueen, Matthew C. Keller

published 31 Jan 2014

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Mitochondrial DNA 10609T Promotes Hypoxia-Induced Increase of Intracellular ROS and Is a Risk Factor of High Altitude Polycythemia

Chunhua Jiang, Jianhua Cui, Fuyu Liu, Liang Gao, Yongjun Luo, Peng Li, Libin Guan, Yuqi Gao

published 30 Jan 2014

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Genome Wide Analysis Indicates Genes for Basement Membrane and Cartilage Matrix Proteins as Candidates for Hip Dysplasia in Labrador Retrievers

Ineke C. M. Lavrijsen, Peter A. J. Leegwater, Alan J. Martin, Stephen J. Harris, Marianna A. Tryfonidou, Henri C. M. Heuven, Herman A. W. Hazewinkel

published 30 Jan 2014

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Mixed Model Methods for Genomic Prediction and Variance Component Estimation of Additive and Dominance Effects Using SNP Markers

Yang Da, Chunkao Wang, Shengwen Wang, Guo Hu

published 30 Jan 2014

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SNP Discovery in the Transcriptome of White Pacific Shrimp Litopenaeus vannamei by Next Generation Sequencing

Yang Yu, Jiankai Wei, Xiaojun Zhang, Jingwen Liu, Chengzhang Liu, Fuhua Li, Jianhai Xiang

published 30 Jan 2014

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